{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,31]],"date-time":"2026-03-31T10:11:04Z","timestamp":1774951864924,"version":"3.50.1"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":3683,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1995,5,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study sought to determine whether persons of French\u2010Canadian heritage in northern New England are at high risk for the lethal infantile form of Tay\u2010Sachs disease. In order to accomplish this, death records and laboratory diagnostic records were surveyed to ascertain Tay\u2010Sachs deaths in a cohort of 372,000 live births between 1977\u20131986. The proportion of the total population with French\u2010Canadian or Jewish heritage was determined from census and birth records, and the ethnic background of Tay\u2010Sachs cases was determined from the corresponding birth records. In 1,860 births, both parents were of Ashkenazi Jewish heritage. One of those children was diagnosed with Tay\u2010Sachs disease. In 41,000 births, both parents were of French\u2010Canadian heritage, and in an additional 93,000 births, one parent was of French\u2010Canadian heritage. No cases of Tay\u2010Sachs disease were identified in the offspring of those individuals. Approximately 14 cases (95% confidence interval 8\u201320) would be expected, if the gene frequency approximated that reported for individuals of Ashkenazi Jewish heritage. Based on the results of this study, routine testing for Tay\u2010Sachs disease heterozygosity is not indicated for persons of French\u2010Canadian heritage in northern New England. This conclusion may not necessarily be valid for persons of French\u2010Canadian heritage residing in other states. Further studies of Tay\u2010Sachs disease mutations and prevalence among persons of French\u2010Canadian heritage will be important to determine possible regional variations in gene frequencies. \u00a9 1995 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320560412","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T18:00:38Z","timestamp":1118512838000},"page":"409-412","source":"Crossref","is-referenced-by-count":10,"title":["Tay\u2010sachs disease in persons of French\u2010Canadian heritage in northern New England"],"prefix":"10.1002","volume":"56","author":[{"given":"Glenn E.","family":"Palomaki","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Josephine","family":"Williams","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E.","family":"Haddow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marvin R.","family":"Natowicz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"17","article-title":"Tay Sachs disease in Quebec: evidence for a geographic aggregate in the French\u2010Canadian population and identification of a new retardation syndrome with possible linkage to the Tay\u2010Sachs gene","volume":"98","author":"Andermann E","year":"1973","journal-title":"Trans Am Neurol Assoc"},{"key":"e_1_2_1_3_1","first-page":"161","volume-title":"Tay\u2010Sachs Disease: Screening and Prevention","author":"Andermann E","year":"1977"},{"key":"e_1_2_1_4_1","first-page":"1198","article-title":"A second mutation associated with \u03b2\u2010hexosaminidase pseudodeficiency: identification and frequency estimation","volume":"53","author":"Cao Z","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00207048"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.9.759"},{"key":"e_1_2_1_7_1","first-page":"815","article-title":"More than one mutant allele causes infantile Tay\u2010Sachs disease in French\u2010Canadians","volume":"47","author":"Hechtman P","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00220467"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.270.19.2307"},{"key":"e_1_2_1_10_1","unstructured":"KanzlerEM(1982):Processes of immigration: the Franco Americans of Manchester New Hampshire 1875\u20131925. 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