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A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene

✍ Scribed by Joel E. Straughen; Juliana Johnson; Donna McLaren; Maria Proytcheva; Nathan Ellis; James German; Joanna Groden

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 157 KB
Volume: 11
Category: Article
ISSN: 1059-7794
DOI: 10.1002/(sici)1098-1004(1998)11:2<175::aid-humu11>3.0.co;2-w

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✦ Synopsis

Bloom's syndrome (BS) is a rare, autosomal recessive disease characterized by sun sensitivity, short stature, and predisposition to cancer. Although rare in the general population, BS is more common in the Ashkenazi Jewish population (German, 1993). The isolation of the gene for BS, known as BLM, has permitted the identification of mutations within the gene and the discovery that most BS individuals of Ashkenazi Jewish origin carry the identical 6-bp deletioin/7-bp insertion at position 2,281 of BLM (blmAsh). We have developed a rapid method for detecting blmAsh based on restriction enzyme digestion of a PCR product containing the mutation. blmAsh creates a restriction site within the amplified fragment allowing distinction of normal and mutant DNAs. This method has been designed for use with genomic DNA or cDNA.

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