Article
ATM mutations on distinct SNP and STR haplotypes in ataxia-telangiectasia patients of differing ethnicities reveal ancestral founder effects.
Human mutation - 1 Jan 2003
Campbell Catarina, Mitui Midori, Eng Laura, Coutinho Gabriela, Thorstenson Yvonne, Gatti Richard A
Abstract excerpt
Due to the large size (150 kb) of the ataxia-telangiectasia mutated (ATM) gene and the existence of over 400 mutations, identifying mutations in patients with ataxia-telangiectasia (A-T) is labor intensive. We compared the SNP and STR haplotypes of A-T patients from varying ethnicities who were carrying common ATM mutations. We used SSCP to determine SNP haplotypes. To our surprise, all of the most common ATM...
Topics
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Cell Cycle Proteins
- DNA Mutational Analysis
- DNA-Binding Proteins
- Founder Effect
- Haplotypes
- Humans
- Molecular Sequence Data
- Mutation
- Polymorphism, Single Nucleotide
- Polymorphism, Single-Stranded Conformational