The gene for the ataxia-telagiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21
- Humboldt Univ. (Germany); and others
Nijmegen breakage syndrome (NBS; Seemanova II syndrome) and Berlin breakage syndrome (BBS), also known as ataxia-telangiectasia variants, are two clinically indistinguishable autosomal recessive familial cancer syndromes that share with ataxia-telangiectasia similar cellular, immunological, and chromosomal but not clinical findings. Classification in NBS and BBS was based on complementation of their hypersensitivity to ionizing radiation in cell-fusion experiments. Recent investigations have questioned the former classification into two different disease entities, suggesting that NBS/BBS is caused by mutations in a single radiosensitivity gene. We now have performed a whole-genome screen in 14 NBS/BBS families and have localized the gene for NBS/BBS to a 1-cM interval on chromosome 8q21, between markers D8S271 and D8S270, with a peak LOD score of 6.86 at D8S1811. This marker also shows strong allelic association to both Slavic NBS and German BBS patients, suggesting the existence of one major mutation of Slavic origin. Since the same allele is seen in both former complementation groups, genetic homogeneity of NBS/BBS can be considered as proved. 21 refs., 2 figs., 2 tabs.
- OSTI ID:
- 518545
- Journal Information:
- American Journal of Human Genetics, Vol. 60, Issue 3; Other Information: PBD: Mar 1997
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
BASIC STUDIES
56 BIOLOGY AND MEDICINE
APPLIED STUDIES
GENES
GENETIC MAPPING
GENE MUTATIONS
HUMAN CHROMOSOME 8
PATIENTS
NEOPLASMS
HEREDITARY DISEASES
TELANGIECTASIS
RADIOSENSITIVITY
BIOLOGICAL RADIATION EFFECTS
PHENOTYPE
GENOTYPE
DNA
GENETIC RADIATION EFFECTS
HUMAN CHROMOSOMES
RECESSIVE MUTATIONS
GENETICS
IONIZING RADIATIONS
BIOLOGICAL MARKERS
STATISTICS