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American Journal of Human Genetics logoLink to American Journal of Human Genetics
. 1995 Jul;57(1):112–119.

Localization of an Ataxia-Telangiectasia Gene to an −500-kb Interval on Chromosome 11q23.1: Linkage Analysis of 176 Families by an International Consortium

Ethan Lange, Anna-Lise Borresen, Xiaoguang Chen, Luciana Chessa, Sujata Chiplunkar, Patrick Concannon, Sugandha Dandekar, Steven Gerken, Kenneth Lange, Teresa Liang, Carmel McConville, Jeff Polakow, Oscar Porras, Galit Rotman, Ozden Sanal, Sepideh Sheikhavandi, Yosef Shiloh, Eric Sobel, Malcolm Taylor, Milhan Telatar, Sharon Teraoka, Aslihan Tolun, Nitin Udar, Nancy Uhrhammer, Lina Vanagaite, Zhijun Wang, Beth Wapelhorst, Jocyndra Wright, Huan-Ming Yang, Lan Yang, Yael Ziv, Richard A Gatti
PMCID: PMC1801232  PMID: 7611279

Abstract

We describe a 20-point linkage analysis map of chromosome 11q22-23 that is based on genotyping 249 families (59 CEPH and 190 A-T). Monte Carlo linkage analyses of 176 ataxia-telangiectasia (A-T) families localizes the major A-T locus to the region between S1819(A4) and S1818(A2). When seven nonlinking families were excluded from subsequent analyses, a 2-lod support interval of ∼500 kb was identified between S1819(A4) and S1294. No recombinants were observed between A-T and markers S384, B7, S535, or S1294. Only 17 of the international consortium families have been assigned to complementation groups. The available evidence favors either a cluster of A-T genes on chromosome 11 or intragenic defects in a single gene.

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Selected References

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