Gene: [11p155/HBHPAI] HpaI recognition polymorphism, beta-globin-related; [HPA1 ]
|
COM |
This marker is considered in MIM as a secondary one and is registered for historical reasons, since it was the first RFLP to be found in the human genome. However, this polymorfism is located outside of the beta-globin gene itself, 5 kb 'below' or 'right' to the 3'-end of the gene. Therefore, The HUGEN catalogue describes this marker as an independent locus because of its practical importance for the gene diagnostics of hemoglobinopathies and for population anatomy of the human genome (extensive bibliography on the prenatal diagnostics and population genetics is presented in FAM:HBB/11p155)." |
|
REF |
MAP,FOG "Kan YW, Dozy AM: Lancet, 2, 910-912, 1978a MAP,FOG "Kan YW, Dozy AM: PNAS, 75, 5631-5635, 1978b MAP,FOG "Panny SR &: AJHG, 33, 25-35, 1981 PND,POP,POG "see FAM:HBB/11p155 |
|
KEY |
hem, trp, mgm |
|
CLA |
unknown, basic |
|
LOC |
11 p15.5 |
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MIM |
MIM: 143020 |
|
SYN |
HPA1 |
