title: The presence of two different infantile Tay-Sachs disease mutations in a Cajun population.
abstract: A study was undertaken to characterize the mutation(s) responsible for Tay-Sachs disease (TSD) in a Cajun population in southwest Louisiana and to identify the origins of these mutations. Eleven of 12 infantile TSD alleles examined in six families had the beta-hexosaminidase A (Hex A) alpha-subunit exon 11 insertion mutation that is present in approximately 70% of Ashkenazi Jewish TSD heterozygotes. The mutation in the remaining allele was a single-base transition in the donor splice site of the alpha-subunit intron 9. To determine the origins of these two mutations in the Cajun population, the TSD carrier status was enzymatically determined for 90 members of four of the six families, and extensive pedigrees were constructed for all carriers. A single ancestral couple from France was found to be common to most of the carriers of the exon 11 insertion. Pedigree data suggest that this mutation has been in the Cajun population since its founding over 2 centuries ago and that it may be widely distributed within the population. In contrast, the intron 9 mutation apparently was introduced within the last century and probably is limited to a few Louisiana families.
authors.affiliation: Department of Pediatrics, University of Maryland School of Medicine, Baltimore 21201.
authors.forename: G A
authors.initials: GA
authors.lastname: McDowell
authors.forename: E H
authors.initials: EH
authors.lastname: Mules
authors.forename: P
authors.initials: P
authors.lastname: Fabacher
authors.forename: E
authors.initials: E
authors.lastname: Shapira
authors.forename: M G
authors.initials: MG
authors.lastname: Blitzer
mesh_terms: D001483:Base Sequence; D005006:Ethnicity / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D054818:Hexosaminidase A; D006801:Humans; D007438:Introns / Q000235:genetics; D008145:Louisiana / Q000453:epidemiology; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013661:Tay-Sachs Disease / Q000453:epidemiology / Q000235:genetics*; D001619:beta-N-Acetylhexosaminidases / Q000235:genetics*
chemical_list: D054818:Hexosaminidase A; D001619:beta-N-Acetylhexosaminidases