Article
ATM gene founder haplotypes and associated mutations in Polish families with ataxia-telangiectasia.
Annals of human genetics - 1 Nov 2005
Mitui M, Bernatowska E, Pietrucha B, Piotrowska-Jastrzebska J, Eng L, Nahas S, Teraoka S, Sholty G, Purayidom A, Concannon P, Gatti R A
Abstract excerpt
Ataxia-telangiectasia (A-T) is an early onset autosomal recessive ataxia associated with characteristic chromosomal aberrations, cell cycle checkpoint defects, cancer susceptibility, and sensitivity to ionizing radiation. We utilized the protein truncation test (PTT), and single strand conformation polymorphism (SSCP) on cDNA, as well as denaturing high performance liquid chromatography (dHPLC) on genomic DNA...
Topics
- Adolescent
- Ataxia Telangiectasia
- Ataxia Telangiectasia Mutated Proteins
- Cell Cycle Proteins
- Child
- Child, Preschool
- Chromatography, High Pressure Liquid
- DNA-Binding Proteins
- Family
- Female
- Founder Effect
- Haplotypes
- Homozygote