PubMed:1483696 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1483696","sourcedb":"PubMed","sourceid":"1483696","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1483696","text":"The intron 7 donor splice site transition: a second Tay-Sachs disease mutation in French Canada.\nMutations at the hexosaminidase A (HEXA) gene which cause Tay-Sachs disease (TSD) have elevated frequency in the Ashkenazi Jewish and French-Canadian populations. We report a novel TSD allele in the French-Canadian population associated with the infantile form of the disease. The mutation, a G--\u003eA transition at the +1 position of intron 7, abolishes the donor splice site. Cultured human fibroblasts from a compound heterozygote for this transition (and for a deletion mutation) produce no detectable HEXA mRNA. The intron 7 + 1 mutation occurs in the base adjacent to the site of the adult-onset TSD mutation (G805A). In both mutations a restriction site for the endonuclease EcoRII is abolished. Unambiguous diagnosis, therefore, requires allele-specific oligonucleotide hybridization to distinguish between these two mutant alleles. The intron 7 + 1 mutation has been detected in three unrelated families. Obligate heterozygotes for the intron 7 + 1 mutation were born in the Saguenay-Lac-St-Jean region of Quebec. The most recent ancestors common to obligate carriers of this mutation were from the Charlevoix region of the province of Quebec. This mutation thus has a different geographic centre of diffusion and is probably less common than the exon 1 deletion TSD mutation in French Canadians. Neither mutation has been detected in France, the ancestral homeland of French Canada.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":52,"end":69},"obj":"Modifier:D013661"},{"id":"T2","span":{"begin":155,"end":172},"obj":"SpecificDisease:D013661"},{"id":"T3","span":{"begin":174,"end":177},"obj":"SpecificDisease:D013661"},{"id":"T4","span":{"begin":278,"end":281},"obj":"Modifier:D013661"},{"id":"T5","span":{"begin":696,"end":699},"obj":"Modifier:D013661"},{"id":"T6","span":{"begin":1366,"end":1369},"obj":"Modifier:D013661"}],"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"},{"subj":"T6","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":132,"end":136},"obj":"gene:3073"},{"id":"T1","span":{"begin":155,"end":172},"obj":"disease:C0039373"},{"id":"T2","span":{"begin":132,"end":136},"obj":"gene:3073"},{"id":"T3","span":{"begin":174,"end":177},"obj":"disease:C0039373"}],"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"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1483696-5#99#104#geners121907954","span":{"begin":710,"end":715},"obj":"geners121907954"},{"id":"1483696-5#85#88#diseaseC0039373","span":{"begin":696,"end":699},"obj":"diseaseC0039373"}],"relations":[{"id":"99#104#geners12190795485#88#diseaseC0039373","pred":"associated_with","subj":"1483696-5#99#104#geners121907954","obj":"1483696-5#85#88#diseaseC0039373"}],"attributes":[{"subj":"1483696-5#99#104#geners121907954","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"1483696-5#85#88#diseaseC0039373","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1483696-1#35#39#gene3073","span":{"begin":132,"end":136},"obj":"gene3073"},{"id":"1483696-1#58#75#diseaseC0039373","span":{"begin":155,"end":172},"obj":"diseaseC0039373"},{"id":"1483696-1#77#80#diseaseC0039373","span":{"begin":174,"end":177},"obj":"diseaseC0039373"}],"relations":[{"id":"35#39#gene307358#75#diseaseC0039373","pred":"associated_with","subj":"1483696-1#35#39#gene3073","obj":"1483696-1#58#75#diseaseC0039373"},{"id":"35#39#gene307377#80#diseaseC0039373","pred":"associated_with","subj":"1483696-1#35#39#gene3073","obj":"1483696-1#77#80#diseaseC0039373"}],"attributes":[{"subj":"1483696-1#35#39#gene3073","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1483696-1#58#75#diseaseC0039373","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1483696-1#77#80#diseaseC0039373","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"NCBI-Disease-Train","denotations":[{"id":"T1228","span":{"begin":52,"end":69},"obj":"Modifier"},{"id":"T1229","span":{"begin":155,"end":172},"obj":"SpecificDisease"},{"id":"T1230","span":{"begin":174,"end":177},"obj":"SpecificDisease"},{"id":"T1231","span":{"begin":278,"end":281},"obj":"Modifier"},{"id":"T1232","span":{"begin":696,"end":699},"obj":"Modifier"},{"id":"T1233","span":{"begin":1366,"end":1369},"obj":"Modifier"}],"attributes":[{"id":"A1228","pred":"database_id","subj":"T1228","obj":"D013661"},{"id":"A1229","pred":"database_id","subj":"T1229","obj":"D013661"},{"id":"A1230","pred":"database_id","subj":"T1230","obj":"D013661"},{"id":"A1231","pred":"database_id","subj":"T1231","obj":"D013661"},{"id":"A1232","pred":"database_id","subj":"T1232","obj":"D013661"},{"id":"A1233","pred":"database_id","subj":"T1233","obj":"D013661"},{"subj":"T1228","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1229","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1230","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1231","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1232","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T1233","pred":"source","obj":"NCBI-Disease-Train"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T1228","span":{"begin":52,"end":69},"obj":"Modifier"},{"id":"T1229","span":{"begin":155,"end":172},"obj":"SpecificDisease"},{"id":"T1230","span":{"begin":174,"end":177},"obj":"SpecificDisease"},{"id":"T1231","span":{"begin":278,"end":281},"obj":"Modifier"},{"id":"T1232","span":{"begin":696,"end":699},"obj":"Modifier"},{"id":"T1233","span":{"begin":1366,"end":1369},"obj":"Modifier"}],"attributes":[{"id":"A1228","pred":"database_id","subj":"T1228","obj":"D013661"},{"id":"A1229","pred":"database_id","subj":"T1229","obj":"D013661"},{"id":"A1230","pred":"databas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