Birgander R, Själander A, Saha N, Spitsyn V, Beckman L, Beckman G
Department of Medical Genetics, Umeå University, Sweden.
Hum Hered. 1996 May-Jun;46(3):148-54. doi: 10.1159/000154344.
The codon 31 polymorphism of the p53-inducible protein p21 was studied with respect to allele frequency variations between some major ethnic groups. The frequency of the Al (Arg) allele showed highly significant variations ranging from 4% in Caucasians (Swedes) to 50% in Chinese. Compared to Caucasians, a relatively high frequency was found in African Blacks (29%) and Indians (16%). Furthermore, Finns and Mordvinians also had higher frequencies (9-10%) than west Europeans (French and Swedes), consistent with an Asiatic Mongoloid influence known to exist in Finno-Ugrian tribes. The geographic allele frequency patterns of p53 and its effector protein p21 were quite different. The p21 A1 mutations in African, Asiatic and European populations were identical at the DNA level. The geographical distribution of the A1 allele suggests an independent origin in Africa and Asia. The very pronounced ethnic differentiation of tumour suppressor genes and the fact that tumour suppressor genes may be teratogenes suggest that these polymorphisms are maintained by natural selection, probably operating in the intrauterine period.
针对p53诱导蛋白p21的密码子31多态性，研究了一些主要种族群体之间的等位基因频率差异。Al（精氨酸）等位基因的频率呈现出高度显著的差异，从白种人（瑞典人）中的4%到中国人中的50%不等。与白种人相比，非洲黑人（29%）和印度人（16%）的频率相对较高。此外，芬兰人和莫尔多瓦人的频率（9 - 10%）也高于西欧人（法国人和瑞典人），这与已知存在于芬兰 - 乌戈尔部落中的亚洲蒙古人种影响一致。p53及其效应蛋白p21的地理等位基因频率模式截然不同。非洲、亚洲和欧洲人群中的p21 A1突变在DNA水平上是相同的。A1等位基因的地理分布表明其在非洲和亚洲有独立的起源。肿瘤抑制基因非常明显的种族分化以及肿瘤抑制基因可能是致畸基因这一事实表明，这些多态性是由自然选择维持的，可能在子宫内时期起作用。
