Ashkenazi Jewish population frequency of the Bloom syndrome gene 2281 delta 6ins7 mutation.

Abstract excerpt

Bloom syndrome is an autosomal recessive disorder characterized clinically by small size, sun-sensitive facial erythema, and immunodeficiency, and cytogenetically by increased chromosome breakage and sister chromatid exchange. Genomic instability renders Bloom syndrome patients at elevated risk for multiple cancers. Bloom syndrome occurs most commonly in the Ashkenazi Jewish population due to an apparent founder...

Topics

• Adenosine Triphosphatases
• Base Sequence
• Bloom Syndrome
• DNA Helicases
• DNA Mutational Analysis
• Gene Frequency
• Genes, Recessive
• Genetic Carrier Screening
• Genetic Testing
• Humans
• Jews
• Mutation
• Polymerase Chain Reaction
• RecQ Helicases