Evidence for effective suppression of recombination in the chromosome 17q21 segment spanning RNU2-BRCA1 (ital)
Article Abstract:
Evidence exists for recombination suppression n the chromosome 17q21 segment that spans RNU2-BRCA1 (ital). Characterization of associations between polymorphic sites located throughout the about-200-400-kb variable-length region shows almost complete linkage disequilibrium. Implications exist for the interpretation of significance of rare allelic variants, investigation of origins of modern populations and the estimation of the time of origin of BRCA1 mutations with a founder effect.
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1999
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The Bloom's syndrome gene product is homologous to RecQ helicases
Article Abstract:
The peptide encoded by the BLM gene, the Bloom's syndrome (BS) gene, is similar in structure to the RecQ helicases. The BLM gene controls the stability of chromosomes in the somatic cells. Individuals suffering from BS contain chain-terminating mutations in the BLM gene, which cause a loss of enzymatic activity in the BLM gene product. The loss of the BLM product causes defects in other enzymes involved in DNA replication. The RecQ helicase family consists of DNA and RNA helicases.
Publication Name: Cell
Subject: Biological sciences
ISSN: 0092-8674
Year: 1995
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