Article
The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.
American journal of human genetics - 1 Dec 1998
Ellis N A, Ciocci S, Proytcheva M, Lennon D, Groden J, German J
Abstract excerpt
Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than in any other. There the predominant mutation, referred to as "blmAsh," is a 6-bp deletion and 7-bp insertion at nucleotide position 2281 in the BLM cDNA. Using a convenient PCR assay, we have identified blmAsh on 58 of...
Topics
- Adenosine Triphosphatases
- Alleles
- Bloom Syndrome
- Christianity
- Chromosomes, Human
- Consanguinity
- DNA Helicases
- El Salvador
- Founder Effect
- Gene Frequency
- Genotype
- Haplotypes
- Humans
- Jews
- Mexico
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Genetic