{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T02:17:17Z","timestamp":1789179437076,"version":"build-2803163510"},"reference-count":32,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4902,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genetic Epidemiology"],"published-print":{"date-parts":[[1992,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Tay\u2010Sachs disease (TSD), a neurodegenerative disorder resulting from a deficiency of the lysosomal enzyme hexosaminidase A (HexA), clusters in Ashkenazic Jews. Population\u2010based screening programs to detect carriers of TSD genes by means of HexA assays have been active since the 1970s. The recent characterization of 3 mutations in the HEXA gene (in exon 7, exon 11, and intron 12), which account for over 90% of HEXA mutations in Ashkenazim, appeared to offer better options for screening and diagnosis. The relative frequencies of the three mutations in Montreal are similar to those reported in four other North American populations. We compared enzyme and DNA analyses to determine specificity and sensitivity of each test when the other was used as the confirmatory procedure. Neither procedure has a sensitivity of 1.0. Maximum sensitivity and specificity were achieved by using both tests together. The findings here are likely to apply to most cases where the variant screened enzyme phenotype can result from more than one mutation. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/gepi.1370090303","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T23:03:06Z","timestamp":1118530986000},"page":"169-175","source":"Crossref","is-referenced-by-count":21,"title":["Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay\u2010sachs disease gene carriers among Ashkenazic Jews"],"prefix":"10.1002","volume":"9","author":[{"given":"Maria J. G.","family":"Fernandes","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Feige","family":"Kaplan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline L.","family":"Clow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hechtman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles R.","family":"Scriver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John. J.","family":"Mulvihill","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"161","volume-title":"Tay\u2010Sachs Disease: Screening and Prevention","author":"Andermann E","year":"1977"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/333085a0"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(84)90215-8"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197411282912206"},{"key":"e_1_2_1_6_1","first-page":"381","volume-title":"Tay\u2010Sachs Disease: Screening and Prevention","author":"Clow CL","year":"1977"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(74)90361-1"},{"key":"e_1_2_1_8_1","first-page":"A155","article-title":"Comparisons of \u03b2\u2010hexosaminidase A (Hex A) genotypes and phenotypes in persons studied by DNA and enzyme methods together","volume":"47","author":"Fernandes M","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1974.tb01838.x"},{"key":"e_1_2_1_10_1","first-page":"604","article-title":"Distribution of three alpha\u2010chain beta\u2010hexoaminidase A mutations among Tay\u2010Sachs carriers","volume":"48","author":"Grebner EE","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"162","DOI":"10.1159\/000469426","article-title":"Influence of ethanol on the human serum level of \u03b2\u2010hexosaminidase","volume":"33","author":"Isakssim A","year":"1985","journal-title":"Enzyme"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(72)28123-X"},{"key":"e_1_2_1_13_1","first-page":"13","volume-title":"Tay\u2010Sachs Disease: Screening and Prevention","author":"Kaback MM","year":"1977"},{"key":"e_1_2_1_14_1","first-page":"267","volume-title":"Tay\u2010Sachs disease: Screening and Prevention","author":"Kaback MM","year":"1977"},{"key":"e_1_2_1_15_1","first-page":"213","volume-title":"Tay\u2010Sachs Disease: Screening and Prevention","author":"Kolodny EH","year":"1977"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.28.3.177"},{"key":"e_1_2_1_17_1","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1093\/clinchem\/19.12.1345","article-title":"Automated assay of hexosaminidases in serum","volume":"19","author":"Lowden JA","year":"1973","journal-title":"Clin Chem"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.85.11.3955"},{"key":"e_1_2_1_19_1","doi-asserted-by":"crossref","first-page":"18567","DOI":"10.1016\/S0021-9258(18)37323-X","article-title":"The major defect in Ashkenazi Jews with Tay\u2010Sachs disease is an insertion in the gene for the alpha\u2010chain of beta\u2010hexosaminidase","volume":"263","author":"Myerowitz R","year":"1988","journal-title":"J Biol Chem"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3754980"},{"key":"e_1_2_1_21_1","doi-asserted-by":"crossref","first-page":"15396","DOI":"10.1016\/S0021-9258(18)47738-1","article-title":"A deletion involving Alu sequences in the beta\u2010hexosaminidase alpha\u2010chain gene of French\u2010Canadians with Tay\u2010Sachs disease","volume":"262","author":"Myerowitz R","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.2522679"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197007022830104"},{"key":"e_1_2_1_24_1","doi-asserted-by":"crossref","first-page":"18563","DOI":"10.1016\/S0021-9258(19)81396-0","article-title":"Multiple abnormal \u03b2\u2010hexosaminidase \u03b1 chain mRNAs in a compound\u2010heterozygous Ashkenazi Jewish patient with Tay\u2010Sachs disease","volume":"263","author":"Ohno K","year":"1988","journal-title":"J Biol Chem"},{"key":"e_1_2_1_25_1","first-page":"698","article-title":"Frequency of three Hex A mutant alleles among Jewish and non\u2010Jewish carriers identified in a Tay\u2010Sachs screening program","volume":"47","author":"Paw BH","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_26_1","doi-asserted-by":"crossref","first-page":"5677","DOI":"10.1016\/S0021-9258(18)45628-1","article-title":"Organization of the gene encoding the human beta\u2010hexosaminidase alpha\u2010chain","volume":"262","author":"Proia RL","year":"1987","journal-title":"J Biol Chem"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(69)80274-7"},{"key":"e_1_2_1_28_1","first-page":"1807","volume-title":"The Metabolic Basis of Inherited Disease","author":"Sandhoff K","year":"1989"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1620\/tjem.160.203"},{"key":"e_1_2_1_30_1","first-page":"1041","article-title":"Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay\u2010Sachs disease","volume":"49","author":"Triggs\u2010Raine BL","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_31_1","first-page":"183","article-title":"Diagnostic heteroduplexes: simple detection of carriers of a 4bp insertion mutation in Tay\u2010Sachs disease","volume":"46","author":"Triggs\u2010Raine BL","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199007053230102"},{"key":"e_1_2_1_33_1","unstructured":"World Health Organization(1968) Tech. Report Series No. 401."}],"container-title":["Genetic Epidemiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fgepi.1370090303","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/gepi.1370090303","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T11:26:34Z","timestamp":1698146794000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/gepi.1370090303"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,1]]},"references-count":32,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1992,1]]}},"alternative-id":["10.1002\/gepi.1370090303"],"URL":"https:\/\/doi.org\/10.1002\/gepi.1370090303","archive":["Portico"],"relation":{},"ISSN":["0741-0395","1098-2272"],"issn-type":[{"value":"0741-0395","type":"print"},{"value":"1098-2272","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,1]]}}}