PubMed:1323345 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1323345","sourcedb":"PubMed","sourceid":"1323345","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1323345","text":"Molecular characterization of glucose-6-phosphate dehydrogenase (G6PD) deficiency by natural and amplification created restriction sites: five mutations account for most G6PD deficiency cases in Taiwan.\nWe have developed a rapid and simple method to diagnose the molecular defects of glucose-6-phosphate dehydrogenase (G6PD) deficiency in Chinese in Taiwan. This method involves the selective amplification of a DNA fragment from human G6PD gene with specific oligonucleotide primers followed by digestion with restriction enzymes that recognize artificially created or naturally occurring restriction sites. Ninety-four Chinese males with G6PD deficiency were studied. The results show that 50% (47 of 94) were G to T mutation at nucleotide (nt) 1376, 21.3% (20 of 94) were G to A mutation at nt 1388, 7.4% (7 of 94) were A to G mutation at nt 493, 7.4% (7 of 94) were A to G mutation at nt 95, 4.2% (4 of 94) were C to T mutation at nt 1024, 1.1% (1 of 94) was G to T mutation at nt 392, and 1.1% (1 of 94) was G to A mutation at nt 487. These results show that the former five mutations account for more than 90% of G6PD deficiency cases in Taiwan. Aside from showing that G to T change at nt 1376 is the most common mutation, our research indicates that nt 493 mutation is a frequent mutation among Chinese in Taiwan. We compared G6PD activity among different mutations, without discovering significant differences between them.","tracks":[{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1323345-0#65#69#gene2539","span":{"begin":65,"end":69},"obj":"gene2539"},{"id":"1323345-0#170#185#diseaseC2939465","span":{"begin":170,"end":185},"obj":"diseaseC2939465"}],"relations":[{"id":"65#69#gene2539170#185#diseaseC2939465","pred":"associated_with","subj":"1323345-0#65#69#gene2539","obj":"1323345-0#170#185#diseaseC2939465"}],"attributes":[{"subj":"1323345-0#65#69#gene2539","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1323345-0#170#185#diseaseC2939465","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":30,"end":81},"obj":"SpecificDisease:D005955"},{"id":"T2","span":{"begin":170,"end":185},"obj":"SpecificDisease:D005955"},{"id":"T3","span":{"begin":284,"end":335},"obj":"SpecificDisease:D005955"},{"id":"T4","span":{"begin":640,"end":655},"obj":"SpecificDisease:D005955"},{"id":"T5","span":{"begin":1119,"end":1134},"obj":"SpecificDisease:D005955"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T2","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T3","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T4","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T5","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":30,"end":63},"obj":"gene:2539"},{"id":"T1","span":{"begin":170,"end":185},"obj":"disease:C2939465"},{"id":"T2","span":{"begin":65,"end":69},"obj":"gene:2539"},{"id":"T3","span":{"begin":170,"end":185},"obj":"disease:C2939465"}],"relations":[{"id":"R1","pred":"associated_with","subj":"T0","obj":"T1"},{"id":"R2","pred":"associated_with","subj":"T2","obj":"T3"}],"namespaces":[{"prefix":"gene","uri":"http://www.ncbi.nlm.nih.gov/gene/"},{"prefix":"disease","uri":"http://purl.bioontology.org/ontology/MEDLINEPLUS/"}],"attributes":[{"subj":"T0","pred":"source","obj":"DisGeNET"},{"subj":"T1","pred":"source","obj":"DisGeNET"},{"subj":"T2","pred":"source","obj":"DisGeNET"},{"subj":"T3","pred":"source","obj":"DisGeNET"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"DisGeNET5_gene_disease","color":"#93ecc3","default":true},{"id":"NCBIDiseaseCorpus","color":"#eca993"},{"id":"DisGeNET","color":"#9396ec"}]}]}}