title: Tay-Sachs disease in persons of French-Canadian heritage in northern New England.
abstract: This study sought to determine whether persons of French-Canadian heritage in northern New England are at high risk for the lethal infantile form of Tay-Sachs disease. In order to accomplish this, death records and laboratory diagnostic records were surveyed to ascertain Tay-Sachs deaths in a cohort of 372,000 live births between 1977-1986. The proportion of the total population with French-Canadian or Jewish heritage was determined from census and birth records, and the ethnic background of Tay-Sachs 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-Sachs disease. In 41,000 births, both parents were of French-Canadian heritage, and in an additional 93,000 births, one parent was of French-Canadian heritage. No cases of Tay-Sachs disease were identified in the offspring of those individuals. Approximately 14 cases (95% confidence interval 8-20) 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-Sachs disease heterozygosity is not indicated for persons of French-Canadian heritage in northern New England. This conclusion may not necessarily be valid for persons of French-Canadian heritage residing in other states. Further studies of Tay-Sachs disease mutations and prevalence among persons of French-Canadian heritage will be important to determine possible regional variations in gene frequencies.
authors.affiliation: Foundation for Blood Research, Scarborough, Maine 04070-0190, USA.
authors.forename: G E
authors.initials: GE
authors.lastname: Palomaki
authors.forename: J
authors.initials: J
authors.lastname: Williams
authors.forename: J E
authors.initials: JE
authors.lastname: Haddow
authors.forename: M R
authors.initials: MR
authors.lastname: Natowicz
mesh_terms: D002648:Child; D002675:Child, Preschool; D005787:Gene Frequency; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009511:New England / Q000453:epidemiology; D011792:Quebec / Q000208:ethnology; D013661:Tay-Sachs Disease / Q000453:epidemiology* / Q000208:ethnology / Q000235:genetics