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. 1995 Jul;57(1):103–111.

Sublocalization of an Ataxia-Telangiectasia Gene Distal to D11S384 by Ancestral Haplotyping In Costa Rican Families

Nancy Uhrhammer, Ethan Lange, Oscar Porras, Arash Naeim, Xiaoguang Chen, Sepideh Sheikhavandi, Sujata Chiplunkar, Lan Yang, Sugandha Dandekar, Teresa Liang, Nima Patel, Sharon Teraoka, Nitin Udar, Nidia Calvo, Patrick Concannon, Kenneth Lange, Richard A Gatti
PMCID: PMC1801239  PMID: 7611278

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 ≈200 kb, between markers S384 and S535.

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Selected References

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