中国新疆回族人群9种稀有血型系统基因频率调查研究

摘要

Objective To investigate RBC MNS,Duffy,Kell,Dombrock,Diego,Kidd,Scianna,Colton and Lutheran blood group gene frequency distribution in Hui nationalities in Xinjiang and build the basis for human population genetics,clinical use of blood or blood autotransfusion and rare library.Methods Nine blood group genotyping of 220 Muslim cases in Xinjiang were detected by PCR-SSP method and sta-tistical analyzed.Results Genotypes observations values and expectations values were obeyed the Hardy-Weinberg genetic rules,but MNS and Kidd systems difference was statistically significant (P <0.05).It was found that there were three rare blood group gene phenotypes in Hui nationalities which were S- s- 2 cases,frequency of 0.009 0;Jka-b- 6 cases,frequency of 0.027 2;Fya-b- 1 case,frequency of 0.004 5. Those were not been reported.nine blood group systems allele frequencies in Hui nationalities in Xinjiang were M=0.0.520 4,N=0.479 6,S=0.095 4,s=0.904 6,Fya=0.872 7,Fyb=0.127 3,K1=0.006 8,K2=0.993 2,Doa=0.138 6,Dob=0.861 4,Dia=0.015 9,Dib=0.984 1,JKa=0.495 5,JKb=0.504 5,Sc1=1.000 0,Sc2=0,Coa=0.993 2,Cob=0.006 8,Lua=0,Lub=1.000 0,Aua=0.909 1,Aub=0.090 9.Con-clusion MNS,Kidd,Duffy,Dombrock and Diego 5 cases blood group gene frequency distribution systems had obvious difference in Xinjiang Hui nationalities comparing with other races.Genetic alterations oc-cured in MNs and Kidd blood group systems,which had there own unique characters;Kell and Colton gene distri-bution in Xinjiang Hui nationalities were similar to thoes in Tibetan and Han;The distribution of Scianna,Kell and Lutheran were similar to Tibetan,Han,and their distributions showed a single state.%目的：探讨中国新疆回族人群红细胞 MNS、Duffy、Kell、Dombrock、Diego、Kidd、Scianna、Colton 和 Lu-theran 血型系统基因频率的分布情况，为人类群体遗传学、临床用血或自身输血及稀有血型库建设奠定基础。方法采用 PCR-SSP 法对220名新疆回族人群9个血型系统进行基因分型和统计学分析。结果（1）新疆回族人群9种稀有血型系统基因型分布的观测值与期望值基本符合 Hardy-Weinberg 遗传规则，但 MNS 和 Kidd 系统差别有统计学意义（P ＜0．05）。回族人群有3个稀有血型系统基因表现型罕见存在，即 S－ s－2例，频率为0．0090；Jka－b－6例，频率为0．0272；Fya－b－1例，频率为0．0045。（2）中国新疆回族人群9个血型系统等位基因频率分别为M＝0．5204，N＝0．4796，S＝0．0954，s＝0．9046，Fya ＝0．8727，Fyb ＝0．1273，K1＝0．0068，K2＝0．9932，Doa ＝0．1386，Dob ＝0．8614，Dia ＝0．0159，Dib ＝0．9841，JKa ＝0．4955，JKb ＝0．5045，Sc1＝1．0000，Sc2＝0，Coa ＝0．9932，Cob ＝0．0068，Lua ＝0，Lub ＝1．0000，Aua ＝0．9091，Aub ＝0．0909。结论中国新疆回族人群 MNS、Kidd、Duffy、Dombrock 和 Diego 5种血型系统基因频率分布与其他种族有明显区别，呈现多态性；MNs 和 Kidd 血型系统发生遗传改变，具有民族自身独特性；Kell 和 Colton 基因分布与藏族、汉族其他人群分布相似；Scianna、Kell和 Lutheran 与藏族、汉族其他人群分布特点相同，呈单态性分布特征。