Document Detail

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.
MedLine Citation:
PMID:  1301937     Owner:  NLM     Status:  MEDLINE    
Following the birth of two infants with Tay-Sachs disease (TSD), a non-Jewish, Pennsylvania Dutch kindred was screened for TSD carriers using the biochemical assay. A high frequency of individuals who appeared to be TSD heterozygotes was detected (Kelly et al., 1975). Clinical and biochemical evidence suggested that the increased carrier frequency was due to at least two altered alleles for the hexosaminidase A alpha-subunit. We now report two mutant alleles in this Pennsylvania Dutch kindred, and one polymorphism. One allele, reported originally in a French TSD patient (Akli et al., 1991), is a GT-->AT transition at the donor splice-site of intron 9. The second, a C-->T transition at nucleotide 739 (Arg247Trp), has been shown by Triggs-Raine et al. (1992) to be a clinically benign "pseudodeficient" allele associated with reduced enzyme activity against artificial substrate. Finally, a polymorphism [G-->A (759)], which leaves valine at codon 253 unchanged, is described.
E H Mules; S Hayflick; C E Dowling; T E Kelly; B R Akerman; R A Gravel; G H Thomas
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Human mutation     Volume:  1     ISSN:  1059-7794     ISO Abbreviation:  Hum. Mutat.     Publication Date:  1992  
Date Detail:
Created Date:  1993-06-10     Completed Date:  1993-06-10     Revised Date:  2007-11-15    
Medline Journal Info:
Nlm Unique ID:  9215429     Medline TA:  Hum Mutat     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  298-302     Citation Subset:  IM    
Genetics Laboratory, Kennedy Krieger Institute, Baltimore, Maryland 21205.
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MeSH Terms
Base Sequence
DNA / genetics
DNA Mutational Analysis
Ethnic Groups
Heterozygote Detection
Hexosaminidase A
Point Mutation
Polymorphism, Genetic
Prenatal Diagnosis
Tay-Sachs Disease / diagnosis,  enzymology*,  genetics*
beta-N-Acetylhexosaminidases / deficiency*,  genetics*
Grant Support
Reg. No./Substance:
9007-49-2/DNA; EC A; EC

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