Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.

doi:10.1002/(SICI)1098-1004(1996)8:2<116::AID-HUMU3>3.0.CO;2-9

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Article

Population-specific screening by mutation analysis for diseases frequent in Ashkenazi Jews.

Human mutation - 1 Jan 1996

DeMarchi J M, Caskey C T, Richards C S

Abstract excerpt

We describe a partially automated DNA mutation assay for detecting the most frequent mutations in the alpha-subunit of beta-hexosaminidase A, the acid beta-glucosidase and the cystic fibrosis transmembrane conductance regulator genes for the Ashkenazi Jewish population. The assay detects carriers...

Topics

Adult
Alleles
Cystic Fibrosis
Gaucher Disease
Genetic Carrier Screening
Genetics, Population
Hexosaminidase A
Humans
Jews
Mutation
Oligonucleotide Probes
Polymerase Chain Reaction
Tay-Sachs Disease
beta-N-Acetylhexosaminidases

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