Sublocalization of an ataxia-telangiectasia gene distal to D11S384 by ancestral haplotyping in Costa Rican families
- UCLA School of Medicine, Los Angeles, CA (United States); and others
In an effort to localize a gene for ataxia-telangiectasia (A-T), we have genotyped 27 affected Costa Rican families, with 13 markers, in the chromosome 11q22-23 region. Significant linkage disequilibrium was detected for 9/13 markers between D11S1816 and D11S1391. Recombination events observed in these pedigrees places A-T between D11S1819 and D11S1960. One ancestral haplotype is common to 24/54 affected chromosomes and roughly two-thirds of the families. Inferred (ancestral) recombination events involving this common haplotype in earlier generations suggest that A-T is distal to D11S384 and proximal to D11S1960. Several other common haplotypes were identified, consistent with multiple mutations in a single gene. When considered together with all other evidence, this study further sublocalizes the major A-T locus to {approximately}200kb, between markers S384 and S535. 32 refs., 5 figs., 1 tab.
- OSTI ID:
- 91077
- Journal Information:
- American Journal of Human Genetics, Vol. 57, Issue 1; Other Information: PBD: Jul 1995
- Country of Publication:
- United States
- Language:
- English
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