The ataxia-telangiectasia-variant genes 1 and 2 are distinct from the ataxia-telangiectasia gene on chromosome 11q23.1

Journal Article · Sun Oct 01 00:00:00 EDT 1995 · American Journal of Human Genetics

OSTI ID:237454

Stumm, M; Reis, A; Sperling, K ^[1]

---

1. Humboldt Univ. of Berlin (Germany); and others

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.

• OSTI ID: 237454
• Journal Information: American Journal of Human Genetics, Vol. 57, Issue 4; Other Information: PBD: Oct 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
TELANGIECTASIS
GENES
GENE MUTATIONS
GENETIC MAPPING
DNA-CLONING
HUMAN CHROMOSOMES
PATIENTS
HEREDITARY DISEASES
GENOTYPE
RECESSIVE MUTATIONS
YEASTS
CONTIGS
BIOLOGICAL MARKERS
POLYMERASE CHAIN REACTION
GENETICS