Localization of an ataxia-telangiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium.
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 approximately 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.
Lange
E
E
Department of Pathology, University of California, Los Angeles School of Medicine 90095-1732, USA.
Borresen
A L
AL
Chen
X
X
Chessa
L
L
Chiplunkar
S
S
Concannon
P
P
Dandekar
S
S
Gerken
S
S
Lange
K
K
Liang
T
T
D001260:Ataxia Telangiectasia / Q000235:genetics*; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D005190:Family; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008126:Lod Score; D010375:Pedigree
D005819:Genetic Markers