PubMed:9585606 JSONTXT

{"project":"NCBI-Disease-Corpus-GPT5-withguidelines","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":127,"end":154},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":192,"end":205},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T6","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-GPT5-noguidelines","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":117,"end":126},"obj":"Modifier"},{"id":"T4","span":{"begin":127,"end":154},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":166,"end":175},"obj":"Modifier"},{"id":"T6","span":{"begin":180,"end":191},"obj":"Modifier"},{"id":"T7","span":{"begin":192,"end":205},"obj":"DiseaseClass"},{"id":"T8","span":{"begin":231,"end":246},"obj":"SpecificDisease"},{"id":"T9","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-GPT5-guidelineprompt","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":117,"end":154},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":192,"end":205},"obj":"DiseaseClass"},{"id":"T5","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T6","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-Moderated1","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":117,"end":154},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T5","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier:D006432"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease:D006432"},{"id":"T3","span":{"begin":117,"end":154},"obj":"DiseaseClass:D019189"},{"id":"T4","span":{"begin":192,"end":205},"obj":"SpecificDisease:D019190"},{"id":"T5","span":{"begin":210,"end":225},"obj":"SpecificDisease:D003643"},{"id":"T6","span":{"begin":231,"end":246},"obj":"Modifier:D006432"},{"id":"T7","span":{"begin":469,"end":484},"obj":"SpecificDisease:D006432"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Test","denotations":[{"id":"T605","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T606","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T607","span":{"begin":117,"end":154},"obj":"DiseaseClass"},{"id":"T608","span":{"begin":192,"end":205},"obj":"SpecificDisease"},{"id":"T609","span":{"begin":210,"end":225},"obj":"SpecificDisease"},{"id":"T610","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T611","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"attributes":[{"id":"A605","pred":"database_id","subj":"T605","obj":"D006432"},{"id":"A606","pred":"database_id","subj":"T606","obj":"D006432"},{"id":"A607","pred":"database_id","subj":"T607","obj":"D019189"},{"id":"A608","pred":"database_id","subj":"T608","obj":"D019190"},{"id":"A609","pred":"database_id","subj":"T609","obj":"D003643"},{"id":"A610","pred":"database_id","subj":"T610","obj":"D006432"},{"id":"A611","pred":"database_id","subj":"T611","obj":"D006432"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Test-Assistant-Knowledge","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Test-4o-NoGuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":127,"end":154},"obj":"DiseaseClass"},{"id":"T4","span":{"begin":180,"end":205},"obj":"CompositeMention"},{"id":"T5","span":{"begin":210,"end":225},"obj":"CompositeMention"},{"id":"T6","span":{"begin":231,"end":246},"obj":"SpecificDisease"},{"id":"T7","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-o3-2","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-high-o3-1","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-high-o3-2","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Test-4o-GuidelineInPrompt","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-UpdatedGuideline","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":192,"end":205},"obj":"Modifier"},{"id":"T4","span":{"begin":231,"end":246},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-humanintheloop","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-rezarta1","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T605","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T606","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T607","span":{"begin":117,"end":154},"obj":"DiseaseClass"},{"id":"T608","span":{"begin":192,"end":205},"obj":"SpecificDisease"},{"id":"T609","span":{"begin":210,"end":225},"obj":"SpecificDisease"},{"id":"T610","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T611","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"attributes":[{"id":"A605","pred":"database_id","subj":"T605","obj":"D006432"},{"id":"A606","pred":"database_id","subj":"T606","obj":"D006432"},{"id":"A607","pred":"database_id","subj":"T607","obj":"D019189"},{"id":"A608","pred":"database_id","subj":"T608","obj":"D019190"},{"id":"A609","pred":"database_id","subj":"T609","obj":"D003643"},{"id":"A610","pred":"database_id","subj":"T610","obj":"D006432"},{"id":"A611","pred":"database_id","subj":"T611","obj":"D006432"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"123456","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}

{"project":"12345","denotations":[{"id":"T1","span":{"begin":4,"end":19},"obj":"Modifier"},{"id":"T2","span":{"begin":96,"end":111},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":231,"end":246},"obj":"Modifier"},{"id":"T4","span":{"begin":469,"end":484},"obj":"SpecificDisease"}],"text":"The hemochromatosis 845 G--\u003eA and 187 C--\u003eG mutations: prevalence in non-Caucasian populations.\nHemochromatosis, the inherited disorder of iron metabolism, leads, if untreated, to progressive iron overload and premature death. The hemochromatosis gene, HFE, recently has been identified, and characterization of this gene has shown that it contains two mutations that result in amino acid substitutions-cDNA nucleotides 845 G--\u003eA (C282Y) and 187 C--\u003eG (H63D). Although hemochromatosis is common in Caucasians, affecting \u003e=1/300 individuals of northern European origin, it has not been recognized in other populations. The present study used PCR and restriction-enzyme digestion to analyze the frequency of the 845 G--\u003eA and 187 C--\u003eG mutations in HLA-typed samples from non-Caucasian populations, comprising Australian Aboriginal, Chinese, and Pacific Islanders. Results showed that the 845 G--\u003eA mutation was present in these populations (allele frequency 0.32%), and, furthermore, it was always seen in conjunction with HLA haplotypes common in Caucasians, suggesting that 845 G--\u003eA may have been introduced into these populations by Caucasian admixture. 187 C--\u003eG was present at an allele frequency of 2.68% in the two populations analyzed (Australian Aboriginal and Chinese). In the Australian Aboriginal samples, 187 C--\u003eG was found to be associated with HLA haplotypes common in Caucasians, suggesting that it was introduced by recent admixture. In the Chinese samples analyzed, 187 C--\u003eG was present in association with a wide variety of HLA haplotypes, showing this mutation to be widespread and likely to predate the more genetically restricted 845 G--\u003eA mutation."}