The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1.
Year: 1995
Type: article
Abstract: The autosomal recessive disorder ataxia-telangiectasia (AT) was linked to chromosome 11q22-23 in 1988. A recent publication reports now on a gene, ATM, located in this region and found to be mutated in patients from the four complementation groups - A, C, D, and E - that have been established so far. These findings indicate that ATM is probably the sole gene causing the disease. In the course of identification of the gene by positional cloning, the AT region was physically mapped by cosmid and YAC contigs and various highly polymorphic microsatellite markers that can be tested by PCR-based protocols were isolated. 15 refs., 1 fig.
Source: Europe PMC (PubMed Central)
Language: English
Topic: DNA Repair Mechanisms
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W1507919027