Gene: [11q2/ATDC] ataxia telangiectasia (complementation group D); [ATD ]
|
COM |
[1] The AT complementation group D defect was found to be correctable
by transfer of Chr 11 into an SV40-transformed fibroblast cell
line (Komatsu-1990).
[2] Sobel et al. (Sobel-1992) pointed to linkage evidence suggesting that there are 2 AT loci on 11q and that group D AT may be located distal to the site of groups A and C (GEM:11q2/ATM) in the 11q23 region. Kapp et al. (1992) reported the cloning of a putative group D gene that mapped, by means of radiation hybrids, to the region between markers THY1 (GEM:11q2/THY1) and D11S83. [3] In linkage studies of 14 Turkish families, 12 of which were consanguineous, Sanal et al. (Sanal-1992) obtained results indicating that the most likely location for a single AT locus is within a 6-cM sex-averaged interval defined by STMY and the marker CJ77. However, it appeared that there are at least 2 distinct AT loci (ATA and ATD) at 11q22-q23, with perhaps a third locus, ATC, located very near the ATA gene. [4] In the GDB two ataxia-telangiectasia genes (ATM and ATDC) are considered as a single locus (ATM)." |
|
PAT |
See GEM:11q2/ATM:PAT. |
|
HET |
See GEM:11q2/ATM:HET. |
|
REF |
COD,SEQ,LIN "Kapp LN &: AJHG, 51, 45-54, 1992 LOC,LIN "Komatsu K &: Mutation Res, 235, 59-63, 1990 LOC,LIN "Lambert C &: PNAS, 88, 5907-5911, 1991 LIN,FAG,CLO "Leonhardt EA &: Genomics, 19, 130-136, 1994 LIN,HET "Sobel E &: AJHG, 50, 1343-1348, 1992 |
|
KEY |
hem, onc, neu, derm |
|
CLA |
coding, basic |
|
LOC |
11 q22-23 |
|
MIM |
MIM: 208905 |
|
SYN |
ATD |
