Genetic haplotyping of ataxia-telangiectasia families localizes the major gene to an approximately 850 kb region on chromosome 11q23.1.
The genotyping data given localize the major A-T gene to an approximately 850 kb region. They also localize the group A A-T gene (ATA) to a region that contains the approximately 850 kb region. They are compatible with linking A-TFresno to 11q22-23. NBS-V2 does not link to this region. Four non-linking families contain only single affecteds, suggesting that these may be spontaneous mutations rather than evidence for an A-T gene outside the 11q22-23 region. Finally, two other non-linking families contain recombinant haplotypes that are compatible with a second A-T gene at 11q22-23, slightly distal to the approximately 850 kb region. However, convincing evidence for a second gene is still lacking.
Gatti
R A
RA
Department of Pathology, UCLA School of Medicine.
Lange
E
E
Rotman
G
G
Chen
X
X
Uhrhammer
N
N
Liang
T
T
Chiplunkar
S
S
Yang
L
L
Udar
N
N
Dandekar
S
S
Sheikhavandi
S
S
Wang
Z
Z
Yang
H M
HM
Polikow
J
J
Elashoff
M
M
Teletar
M
M
Sanal
O
O
Chessa
L
L
McConville
C
C
Taylor
M
M
Shiloh
Y
Y
Porras
O
O
Borresen
A L
AL
Wegner
R D
RD
Curry
C
C
Gerken
S
S
Lange
K
K
Concannon
P
P
D000328:Adult; D001260:Ataxia Telangiectasia / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D003241:Consanguinity; D005192:Family Health; D005260:Female; D008040:Genetic Linkage; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype