The Ashkenazic Jewish Bloom Syndrome Mutation blmAsh Is Present in Non-Jewish Americans of Spanish Ancestry
Nathan A. Ellis|Susan Ciocci|Maria Proytcheva|David Lennon|Joanna Groden|James German
Bloom syndrome (BS) is more frequent in the Ashkenazic Jewish population than any other. There predominant mutation, referred to as "blmAsh," a 6-bp deletion and 7-bp insertion at nucleotide position 2281 BLM cDNA. Using convenient PCR assay, we have identified blmAsh on 58 of 60 chromosomes transmitted by parents persons with BS. In contrast, 91 unrelated non-Ashkenazic BS whom examined, was only 5, these coming from Spanish-speaking Christian families southwestern United States, Mexico, or El Salvador. These data, along haplotype analyses, show that independently established through founder effect Jews immigrants formerly Spanish colonies. This striking observation underscores complexity history demonstrates importance migration genetic drift formation human populations.
American Journal of Human Genetics|Europe PMC (PubMed Central)|PubMed Central|PubMed