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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 60 chromosomes transmitted by Ashkenazic parents to persons with BS. In contrast, in 91 unrelated non-Ashkenazic...

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Source

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Identifiers

PMID: 9837821
DOI: 10.1086/302167
PMCID: PMC1377640

Genes

BLM

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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The Ashkenazic Jewish Bloom syndrome mutation blmAsh is present in non-Jewish Americans of Spanish ancestry.PMID 9837821Read ↗

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Bloom syndrome and Fanconi's anemia: rate and ethnic origin of mutation carriers in Israel.Semantic proximity Read ↗

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Syndrome-causing mutations of the BLM gene in persons in the Bloom's Syndrome Registry.Semantic proximity Read ↗

Bloom syndrome in a Mexican American family with rhabdomyosarcoma: evidence of a Mexican founder mutation.Semantic proximity Read ↗

Heterozygosity for the BLM(Ash) mutation and cancer risk.Semantic proximity Read ↗

Geographic distribution of disease mutations in the Ashkenazi Jewish population supports genetic drift over selection.Semantic proximity Read ↗

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