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A rapid method for detecting the predominant Ashkenazi Jewish mutation in the Bloom's syndrome gene
Author(s) -
Straughen Joel E.,
Johnson Juliana,
McLaren Donna,
Proytcheva Maria,
Ellis Nathan,
German James,
Groden Joanna
Publication year - 1998
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(1998)11:2<175::aid-humu11>3.0.co;2-w
Subject(s) - biology , genetics , restriction enzyme , gene , genomic dna , population , mutation , restriction site , microbiology and biotechnology , demography , sociology
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 deletion/7‐bp insertion at position 2,281 of BLM ( blm Ash ). We have developed a rapid method for detecting blm Ash based on restriction enzyme digestion of a PCR product containing the mutation. blm Ash 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. Hum Mutat 11:175–178, 1998. © 1998 Wiley‐Liss, Inc.