PubMed:1384323 JSONTXT

{"target":"https://pubannotation.org/docs/sourcedb/PubMed/sourceid/1384323","sourcedb":"PubMed","sourceid":"1384323","source_url":"http://www.ncbi.nlm.nih.gov/pubmed/1384323","text":"A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening.\nDeficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity (i.e., pseudodeficient) by means of in vitro biochemical tests have been described. We analyzed the HEXA gene of one pseudodeficient subject and identified both a C739-to-T substitution that changes Arg247----Trp on one allele and a previously identified Tay-Sachs disease mutation on the second allele. Six additional pseudodeficient subjects were found to have the C739-to-T mutation. This allele accounted for 32% (20/62) of non-Jewish enzyme-defined Tay-Sachs disease carriers but for none of 36 Jewish enzyme-defined carriers who did not have one of three known mutations common to this group. The C739-to-T allele, together with a \"true\" Tay-Sachs disease allele, causes Hex A pseudodeficiency. Given both the large proportion of non-Jewish carriers with this allele and that standard biochemical screening cannot differentiate between heterozygotes for the C739-to-T mutations and Tay-Sachs disease carriers, DNA testing for this mutation in at-risk couples is essential. This could prevent unnecessary or incorrect prenatal diagnoses.","tracks":[{"project":"NCBIDiseaseCorpus","denotations":[{"id":"T1","span":{"begin":47,"end":56},"obj":"Modifier:D013661"},{"id":"T2","span":{"begin":103,"end":138},"obj":"SpecificDisease:D013661"},{"id":"T3","span":{"begin":177,"end":194},"obj":"SpecificDisease:D013661"},{"id":"T4","span":{"begin":234,"end":252},"obj":"SpecificDisease:D013661"},{"id":"T5","span":{"begin":517,"end":534},"obj":"Modifier:D013661"},{"id":"T6","span":{"begin":716,"end":733},"obj":"Modifier:D013661"},{"id":"T7","span":{"begin":906,"end":923},"obj":"Modifier:D013661"},{"id":"T8","span":{"begin":1150,"end":1167},"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"},{"subj":"T7","pred":"source","obj":"NCBIDiseaseCorpus"},{"subj":"T8","pred":"source","obj":"NCBIDiseaseCorpus"}]},{"project":"DisGeNET","denotations":[{"id":"T0","span":{"begin":117,"end":136},"obj":"gene:10724"},{"id":"T1","span":{"begin":177,"end":194},"obj":"disease:C0039373"},{"id":"T2","span":{"begin":362,"end":366},"obj":"gene:3073"},{"id":"T3","span":{"begin":517,"end":534},"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":"sentences","denotations":[{"id":"TextSentencer_T1","span":{"begin":0,"end":102},"obj":"Sentence"},{"id":"TextSentencer_T2","span":{"begin":103,"end":195},"obj":"Sentence"},{"id":"TextSentencer_T3","span":{"begin":196,"end":345},"obj":"Sentence"},{"id":"TextSentencer_T4","span":{"begin":346,"end":565},"obj":"Sentence"},{"id":"TextSentencer_T5","span":{"begin":566,"end":648},"obj":"Sentence"},{"id":"TextSentencer_T6","span":{"begin":649,"end":860},"obj":"Sentence"},{"id":"TextSentencer_T7","span":{"begin":861,"end":962},"obj":"Sentence"},{"id":"TextSentencer_T8","span":{"begin":963,"end":1240},"obj":"Sentence"},{"id":"TextSentencer_T9","span":{"begin":1241,"end":1304},"obj":"Sentence"},{"id":"T1","span":{"begin":0,"end":102},"obj":"Sentence"},{"id":"T2","span":{"begin":103,"end":195},"obj":"Sentence"},{"id":"T3","span":{"begin":196,"end":345},"obj":"Sentence"},{"id":"T4","span":{"begin":346,"end":565},"obj":"Sentence"},{"id":"T5","span":{"begin":566,"end":648},"obj":"Sentence"},{"id":"T6","span":{"begin":649,"end":860},"obj":"Sentence"},{"id":"T7","span":{"begin":861,"end":962},"obj":"Sentence"},{"id":"T8","span":{"begin":963,"end":1240},"obj":"Sentence"},{"id":"T9","span":{"begin":1241,"end":1304},"obj":"Sentence"}],"namespaces":[{"prefix":"_base","uri":"http://pubannotation.org/ontology/tao.owl#"}],"attributes":[{"subj":"TextSentencer_T1","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T2","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T3","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T4","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T5","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T6","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T7","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T8","pred":"source","obj":"sentences"},{"subj":"TextSentencer_T9","pred":"source","obj":"sentences"},{"subj":"T1","pred":"source","obj":"sentences"},{"subj":"T2","pred":"source","obj":"sentences"},{"subj":"T3","pred":"source","obj":"sentences"},{"subj":"T4","pred":"source","obj":"sentences"},{"subj":"T5","pred":"source","obj":"sentences"},{"subj":"T6","pred":"source","obj":"sentences"},{"subj":"T7","pred":"source","obj":"sentences"},{"subj":"T8","pred":"source","obj":"sentences"},{"subj":"T9","pred":"source","obj":"sentences"}]},{"project":"PubCasesORDO","denotations":[{"id":"AB1","span":{"begin":177,"end":194},"obj":"ORDO:845"},{"id":"AB2","span":{"begin":517,"end":534},"obj":"ORDO:845"},{"id":"AB3","span":{"begin":716,"end":733},"obj":"ORDO:845"},{"id":"AB4","span":{"begin":906,"end":923},"obj":"ORDO:845"},{"id":"AB5","span":{"begin":1150,"end":1167},"obj":"ORDO:845"}],"namespaces":[{"prefix":"ORDO","uri":"http://www.orpha.net/ORDO/Orphanet_"}],"attributes":[{"subj":"AB1","pred":"source","obj":"PubCasesORDO"},{"subj":"AB2","pred":"source","obj":"PubCasesORDO"},{"subj":"AB3","pred":"source","obj":"PubCasesORDO"},{"subj":"AB4","pred":"source","obj":"PubCasesORDO"},{"subj":"AB5","pred":"source","obj":"PubCasesORDO"}]},{"project":"DisGeNET5_variant_disease","denotations":[{"id":"1384323-3#115#128#geners121907970","span":{"begin":461,"end":474},"obj":"geners121907970"},{"id":"1384323-3#171#188#diseaseC0039373","span":{"begin":517,"end":534},"obj":"diseaseC0039373"}],"relations":[{"id":"115#128#geners121907970171#188#diseaseC0039373","pred":"associated_with","subj":"1384323-3#115#128#geners121907970","obj":"1384323-3#171#188#diseaseC0039373"}],"attributes":[{"subj":"1384323-3#115#128#geners121907970","pred":"source","obj":"DisGeNET5_variant_disease"},{"subj":"1384323-3#171#188#diseaseC0039373","pred":"source","obj":"DisGeNET5_variant_disease"}]},{"project":"DisGeNET5_gene_disease","denotations":[{"id":"1384323-1#14#33#gene10724","span":{"begin":117,"end":136},"obj":"gene10724"},{"id":"1384323-1#74#91#diseaseC0039373","span":{"begin":177,"end":194},"obj":"diseaseC0039373"},{"id":"1384323-3#16#20#gene3073","span":{"begin":362,"end":366},"obj":"gene3073"},{"id":"1384323-3#171#188#diseaseC0039373","span":{"begin":517,"end":534},"obj":"diseaseC0039373"}],"relations":[{"id":"14#33#gene1072474#91#diseaseC0039373","pred":"associated_with","subj":"1384323-1#14#33#gene10724","obj":"1384323-1#74#91#diseaseC0039373"},{"id":"16#20#gene3073171#188#diseaseC0039373","pred":"associated_with","subj":"1384323-3#16#20#gene3073","obj":"1384323-3#171#188#diseaseC0039373"}],"attributes":[{"subj":"1384323-1#14#33#gene10724","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1384323-1#74#91#diseaseC0039373","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1384323-3#16#20#gene3073","pred":"source","obj":"DisGeNET5_gene_disease"},{"subj":"1384323-3#171#188#diseaseC0039373","pred":"source","obj":"DisGeNET5_gene_disease"}]},{"project":"NCBI-Disease-Train","denotations":[{"id":"T306","span":{"begin":47,"end":56},"obj":"Modifier"},{"id":"T307","span":{"begin":103,"end":138},"obj":"SpecificDisease"},{"id":"T308","span":{"begin":177,"end":194},"obj":"SpecificDisease"},{"id":"T309","span":{"begin":234,"end":252},"obj":"SpecificDisease"},{"id":"T310","span":{"begin":517,"end":534},"obj":"Modifier"},{"id":"T311","span":{"begin":716,"end":733},"obj":"Modifier"},{"id":"T312","span":{"begin":906,"end":923},"obj":"Modifier"},{"id":"T313","span":{"begin":1150,"end":1167},"obj":"Modifier"}],"attributes":[{"id":"A306","pred":"database_id","subj":"T306","obj":"D013661"},{"id":"A307","pred":"database_id","subj":"T307","obj":"D013661"},{"id":"A308","pred":"database_id","subj":"T308","obj":"D013661"},{"id":"A309","pred":"database_id","subj":"T309","obj":"D013661"},{"id":"A310","pred":"database_id","subj":"T310","obj":"D013661"},{"id":"A311","pred":"database_id","subj":"T311","obj":"D013661"},{"id":"A312","pred":"database_id","subj":"T312","obj":"D013661"},{"id":"A313","pred":"database_id","subj":"T313","obj":"D013661"},{"subj":"T306","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T307","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T308","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T309","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T310","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T311","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T312","pred":"source","obj":"NCBI-Disease-Train"},{"subj":"T313","pred":"source","obj":"NCBI-Disease-Train"}]},{"project":"NCBI-Disease-Corpus-All","denotations":[{"id":"T306","span":{"begin":47,"end":56},"obj":"Modifier"},{"id":"T307","span":{"begin":103,"end":138},"obj":"SpecificDisease"},{"id":"T308","span":{"begin":177,"end":194},"obj":"SpecificDisease"},{"id":"T309","span":{"begin":234,"end":252},"obj":"SpecificDisease"},{"id":"T310","span":{"begin":517,"end":534},"obj":"Modifier"},{"id":"T311","span":{"begin":716,"end":733},"obj":"Modifier"},{"id":"T312","span":{"begin":906,"end":923},"obj":"Modifier"},{"id":"T313","span":{"begin":1150,"end":1167},"obj":"Modifier"}],"attributes":[{"id":"A306","pred":"database_id","subj":"T306","obj":"D013661"},{"id":"A307","pred":"database_id","subj":"T307","obj":"D013661"},{"id":"A308","pred":"database_id","subj":"T308","obj":"D013661"},{"id":"A309","pred":"database_id","subj":"T309","obj":"D013661"},{"id":"A310","pred":"database_id","subj":"T310","obj":"D013661"},{"id":"A311","pred":"database_id","subj":"T311","obj":"D013661"},{"id":"A312","pred":"database_id","subj":"T312","obj":"D013661"},{"id":"A313","pred":"database_id","subj":"T313","obj":"D013661"},{"subj":"T306","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T307","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T308","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T309","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T310","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T311","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T312","pred":"source","obj":"NCBI-Disease-Corpus-All"},{"subj":"T313","pred":"source","obj":"NCBI-Disease-Corpus-All"}]},{"project":"NCBI-Disease-Corpus-2stage-All","denotations":[{"id":"T1","span":{"begin":47,"end":56},"obj":"Modifier"},{"id":"T2","span":{"begin":177,"end":194},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":517,"end":534},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":716,"end":733},"obj":"Modifier"},{"id":"T5","span":{"begin":906,"end":923},"obj":"Modifier"},{"id":"T6","span":{"begin":1150,"end":1167},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-2stage-All"}]},{"project":"NCBI-Disease-Corpus-rezarta-All","denotations":[{"id":"T1","span":{"begin":47,"end":56},"obj":"Modifier"},{"id":"T2","span":{"begin":177,"end":194},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":517,"end":534},"obj":"Modifier"},{"id":"T4","span":{"begin":716,"end":733},"obj":"Modifier"},{"id":"T5","span":{"begin":906,"end":923},"obj":"Modifier"},{"id":"T6","span":{"begin":1150,"end":1167},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-rezarta-All"}]},{"project":"NCBI-Disease-Corpus-4oGuideline-All","denotations":[{"id":"T1","span":{"begin":47,"end":56},"obj":"Modifier"},{"id":"T2","span":{"begin":177,"end":194},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":517,"end":534},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":716,"end":733},"obj":"Modifier"},{"id":"T5","span":{"begin":906,"end":923},"obj":"Modifier"},{"id":"T6","span":{"begin":1150,"end":1167},"obj":"Modifier"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-4oGuideline-All"}]},{"project":"NCBI-Disease-Corpus-Simple-All","denotations":[{"id":"T1","span":{"begin":47,"end":56},"obj":"SpecificDisease"},{"id":"T2","span":{"begin":177,"end":194},"obj":"SpecificDisease"},{"id":"T3","span":{"begin":517,"end":534},"obj":"SpecificDisease"},{"id":"T4","span":{"begin":716,"end":733},"obj":"SpecificDisease"},{"id":"T5","span":{"begin":906,"end":923},"obj":"SpecificDisease"},{"id":"T6","span":{"begin":1150,"end":1167},"obj":"SpecificDisease"}],"attributes":[{"subj":"T1","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T2","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T3","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T4","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T5","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"},{"subj":"T6","pred":"source","obj":"NCBI-Disease-Corpus-Simple-All"}]}],"config":{"attribute types":[{"pred":"source","value type":"selection","values":[{"id":"NCBIDiseaseCorpus","color":"#ecbd93","default":true},{"id":"DisGeNET","color":"#a393ec"},{"id":"sentences","color":"#9cec93"},{"id":"PubCasesORDO","color":"#ec93b6"},{"id":"DisGeNET5_variant_disease","color":"#93d0ec"},{"id":"DisGeNET5_gene_disease","color":"#eaec93"},{"id":"NCBI-Disease-Train","color":"#d493ec"},{"id":"NCBI-Disease-Corpus-All","color":"#93ecb9"},{"id":"NCBI-Disease-Corpus-2stage-All","color":"#ec9f93"},{"id":"NCBI-Disease-Corpus-rezarta-All","color":"#93a0ec"},{"id":"NCBI-Disease-Corpus-4oGuideline-All","color":"#baec93"},{"id":"NCBI-Disease-Corpus-Simple-All","color":"#ec93d4"}]}]}}