A RAPID METHOD FOR DETECTING THE PREDOMINANT ASHKENAZI JEWISH MUTATION IN THE BLOOMS-SYNDROME GENE

Bloom's syndrome (BS) is a rare, autosomal recessive disease character ized by sun sensitivity, short stature, and predisposition to cancer. Although rare in the general population, BS is more common in the Ashk enazi 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 Jewi sh origin carry the identical 6-bp deletioin/7-bp insertion at positio n 2,281 of BLM (blm(Ash)). We have developed a rapid method for detect ing blm(Ash) based on restriction enzyme digestion of a PCR product co ntaining the mutation. blm(Ash) creates a restriction site within the amplified fragment allowing distinction of normal and mutant DNAs. Thi s method has been designed for use with genomic DNA or cDNA. (C) 1998 Wiley-Liss, Inc.