Oppenheim A, Jury C L, Rund D, Vulliamy T J, Luzzatto L
Department of Haematology, Hadassah University Hospital, Jerusalem, Israel.
Hum Genet. 1993 Apr;91(3):293-4. doi: 10.1007/BF00218277.
The Jews of Kurdistan are a small inbred population with a high incidence of beta-thalassaemia and glucose-6-phosphate dehydrogenase (G6PD) deficiency. Recently, it was reported that the beta-thalassaemia in this population shows an unusual mutational diversity; 13 different mutations were identified, of which 4 had not previously been observed in any other population. In contrast, we now report that the G6PD deficiency, which has the highest known incidence in the world, and which affects about 70% of males, is almost entirely attributable to a single widespread mutation, G6PD Mediterranean.
库尔德斯坦的犹太人是一个小规模的近亲通婚群体,β地中海贫血和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的发病率很高。最近有报道称,该群体中的β地中海贫血表现出异常的突变多样性;已鉴定出13种不同的突变,其中4种以前在其他任何群体中均未观察到。相比之下,我们现在报告,全球已知发病率最高、影响约70%男性的G6PD缺乏症几乎完全归因于一种广泛存在的单一突变,即G6PD地中海型突变。