Winichagoon P, Higgs D R, Goodbourn S E, Clegg J B, Weatherall D J, Wasi P
EMBO J. 1984 Aug;3(8):1813-8. doi: 10.1002/j.1460-2075.1984.tb02051.x.
The molecular basis of alpha-thalassaemia has been established in 48 Thai subjects with Hb H disease and 15 with the Hb Bart's hydrops fetalis syndrome. This study has shown that in this population there are at least 18 different types of chromosome carrying seven independent alpha-thalassaemia mutations one of which is a novel deletion removing the entire alpha-globin gene complex. Although there are a limited number of alpha-thalassaemia determinants in the Thai population, there is a remarkable degree of variation in the genetic markers which flank them. These markers may be of value in establishing the evolutionary history of the alpha-thalassaemias.
已在48名患有血红蛋白H病的泰国人和15名患有血红蛋白Bart水肿胎儿综合征的泰国人身上确定了α地中海贫血的分子基础。这项研究表明，在该人群中，至少有18种不同类型的染色体携带7种独立的α地中海贫血突变，其中一种是新型缺失，它移除了整个α珠蛋白基因复合体。尽管泰国人群中α地中海贫血决定因素的数量有限，但它们两侧的遗传标记存在显著程度的变异。这些标记可能对确定α地中海贫血的进化史有价值。
