Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.

doi:10.1073/pnas.91.14.6669

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Article

Bloom syndrome: an analysis of consanguineous families assigns the locus mutated to chromosome band 15q26.1.

Proceedings of the National Academy of Sciences of the United States of America - 5 Jul 1994

German J, Roe A M, Leppert M F, Ellis N A

Abstract excerpt

By the principle of identity by descent, parental consanguinity in individuals with rare recessively transmitted disorders dictates homozygosity not just at the mutated disease-associated locus but also at sequences that flank that locus closely. In 25 of 26 individuals with Bloom syndrome examin...

Topics

Alleles
Bloom Syndrome
Cell Line
Chromosome Banding
Chromosome Mapping
Chromosomes, Human, Pair 15
Consanguinity
DNA
Female
Genetic Linkage
Genetic Markers
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Leukocytes

Lod Score

Male

Mutation

Pedigree

Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 8022833
DOI: 10.1073/pnas.91.14.6669
PMCID: PMC44264

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8022833-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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