Ontology highlight
ABSTRACT:
SUBMITTER: Ellis NA
PROVIDER: S-EPMC1377640 | biostudies-other | 1998 Dec
REPOSITORIES: biostudies-other
Ellis N A NA Ciocci S S Proytcheva M M Lennon D D Groden J J German J J
American journal of human genetics 19981201 6
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 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic persons with BS whom we examined, blmAsh was identified only in 5, these coming from Spani ...[more]