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| Content Provider | World Health Organization (WHO)-Global Index Medicus |
|---|---|
| Author | Lange, E. Chiplunkar, S. Naeim, A. Liang, T. Sheikhavandi, S. Uhrhammer, N. Chen, X. Yang, L. Dandekar, S. Porras, O. |
| Spatial Coverage | Costa Rica |
| Description | Country affiliation: United States Author Affiliation: Uhrhammer N ( Department of Pathology, UCLA School of Medicine 90095-1732, USA.) |
| Abstract | 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 200 kb, between markers S384 and S535. |
| ISSN | 00029297 |
| e-ISSN | 15376605 |
| Journal | The American Journal of Human Genetics |
| Issue Number | 1 |
| Volume Number | 57 |
| Language | English |
| Publisher | Cell Press (on behalf of American Society of Human Genetics) |
| Publisher Date | 1995-07-01 |
| Publisher Place | United States |
| Access Restriction | Open |
| Subject Keyword | Ataxia Telangiectasia Genetics Chromosome Mapping Chromosomes, Human, Pair 11 Costa Rica Genetic Markers Haplotypes Linkage Disequilibrium Research Support, Non-u.s. Gov't Research Support, U.s. Gov't, Non-p.h.s. Research Support, U.s. Gov't, P.h.s. Discipline Human Genetics |
| Content Type | Text |
| Resource Type | Article |
| Subject | Genetics Genetics (clinical) |
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