Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.

doi:10.1002/humu.1380010406

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Article

Molecular basis of hexosaminidase A deficiency and pseudodeficiency in the Berks County Pennsylvania Dutch.

Human mutation - 1 Jan 1992

Mules E H, Hayflick S, Dowling C E, Kelly T E, Akerman B R, Gravel R A, Thomas G H

Abstract excerpt

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...

Topics

Alleles
Base Sequence
Consanguinity
DNA
DNA Mutational Analysis
Ethnicity
Female
Genetic Carrier Screening
Hexosaminidase A
Humans
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pennsylvania

Point Mutation

Polymorphism, Genetic

Pregnancy

Prenatal Diagnosis

Tay-Sachs Disease

Source

Open in PubMed

Identifiers

PMID: 1301937
DOI: 10.1002/humu.1380010406

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1301937-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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