Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

doi:10.1007/s00439-003-1072-8

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Article

Origin and spread of the 1278insTATC mutation causing Tay-Sachs disease in Ashkenazi Jews: genetic drift as a robust and parsimonious hypothesis.

Human genetics - 1 Mar 2004

Frisch Amos, Colombo Roberto, Michaelovsky Elena, Karpati Mazal, Goldman Boleslaw, Peleg Leah

Abstract excerpt

The 1278insTATC is the most prevalent beta-hexosaminidase A ( HEXA) gene mutation causing Tay-Sachs disease (TSD), one of the four lysosomal storage diseases (LSDs) occurring at elevated frequencies among Ashkenazi Jews (AJs). To investigate the genetic history of this mutation in the AJ population, a conserved haplotype (D15S981:175-D15S131:240-D15S1050:284-D15S197:144-D15S188:418) was identified in 1278insTATC...

Topics

Alleles
Chromosomes, Human, Pair 15
Europe
Female
Founder Effect
Genetic Drift
Genetics, Population
Haplotypes
Hexosaminidase A
History, Ancient
History, Medieval
Humans
Jews
Linkage Disequilibrium

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Models, Genetic

Mutation

Selection, Genetic

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Open in PubMed

Identifiers

PMID: 14727180
DOI: 10.1007/s00439-003-1072-8

Genes

HEXA

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