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Eur J Hum Genet. 1995;3(2):116-38.

Ataxia-telangiectasia: closer to unraveling the mystery.

Author information

1
Department of Human Genetics, Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel.

Abstract

Ataxia-telangiectasia (A-T) is a progressive genetic disorder affecting the central nervous and immune systems, and involving chromosomal instability, cancer predisposition, radiation sensitivity and cell cycle abnormalities. Studies of the cellular phenotype of A-T have pointed to a defect in a putative system that processes a specific type of DNA damage and initiates a signal transduction pathway controlling replication and repair. A-T is genetically heterogeneous, with 4 complementation groups. While functional cloning of the A-T gene(s) using gene transfer has proven problematic, positional cloning attempts are zeroing in on a defined interval on chromosome 11q22-23 that probably harbors the mutations for all 4 complementation groups.

PMID:
7552141
DOI:
10.1159/000472285
[Indexed for MEDLINE]

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