四川地区彝族ABO等8个血型的分子遗传学研究  

Molecular genetic analysis of ABO,MNS,Duffy,Diego,Lutheran,Kidd,Dombrock and Colton blood group systems in Sichuan Yi population

作　　者：辛友盼 田力 宋宁[1] 张嵘[1] 姚志强[1] 陈静娴[1] 

机构地区：[1]中国医学科学院北京协和医学院输血研究所,四川成都610052

出　　处：《中国输血杂志》2013年第1期41-45,共5页Chinese Journal of Blood Transfusion

摘　　要：目的了解四川地区彝族人群ABO、Duffy、Kidd、MNs、Diego、Lutheran、Dombrock、Colton血型的分子遗传背景及其基因频率的分布规律。方法采集四川省凉山彝族自治州布拖市和冕宁县共120名彝族无血缘关系健康者血样,对ABO基因第6、7外显子作测序分析;对Duffy等另外7个血型系统采用聚合酶链式反应-序列特异性引物(PCR-SSP)作基因分型。结果 120例四川凉山彝族无血缘关系标本中,共检测出5种常见ABO等位基因:A101[0.020 8(5/240)]、A102[0.166 6(40/240)]、B101[0.245 8(59/240)]、O01[0.304 2(73/240)]和O02[0.2625(63/240)]。其他7个血型的基因频率依次为M=0.683 3(164/240)、N=0.316 7(76/240)、S=0.091 7(22/240)和s=0.908 3(218/240);Lua=0(0/240)、Lub=1(240/240);Fya=0.945 8(227/240)、Fyb=0.029 2(7/240)、FyES=0.025 0(6/240);Jka=0.525 0(126/240)、Jkb=0.475 0(114/240);Dia=0.016 7(4/240)Dib=0.983 3(236/240);Doa=0.120 8(29/240)、Dob=0.879 2(211/240);Coa=1(240/240)、Cob=0(0/240)(经χ2检验,均符合Hardy-Weinberg平衡)。结论四川凉山地区彝族人的红细胞血型系统具有一定的分子遗传学特征:等位基因M频率>0.6,Dia频率<0.05,这均符合中国南方人的血型分布特点;FyES等位基因存在一定的分布(Jka>Jkb),Doa频率稍微偏高,显示出该民族一定的特异性。Objective To elucidate the molecular mechanism of ABO, MNS, Duffy, Diego, Lutheran, Kidd, Dombrock and Cohon blood groups in Sichuan Yi population, and investigate their gene frequencies. Methods The ABO blood group of 120 samples were genotyped through sequencing exons 6 and 7 of ABO gene, and the others were genotyped by PCR- SSP. Results In the unrelated 120 samples,five common ABO alleles were identified：A101 （0. 020 8） ,A102（0. 166 7）, B101 （0. 245 8）,001 （0. 304 2）, 002 （ 0. 262 5 ）. Compared to Sichuan Han population, the frequency of the A gene was significantly lower. The allele frequencies of other seven blood groups were as follows ：M = 0. 683 3, N = 0. 316 7, S = 0. 091 7 ,s =0. 908 3 ;Lua =0,Lub = 1 ;Fyb =0. 945 8 ,Fyb =0. 029 2,FyES =0. 025 0;Jka =0. 525 0,Jkb =0. 475 0 ;Dia =0. 016 7,Dib =0. 983 3;Doa =0. 120 8,Dob =0. 879 2;Coa = 1 ,Cob =0. The allele frequencies of the MNS and Diego were con- sistent with the data of population in the south China. The Yi population also showed the genetic specialty of their own： FyES gene exists, and the frequency of Jka gene is a little bit higher than that of Jkb gene, and the frequency of Doa gene is little bit higher. There was no differences between the gene frequencies of Lutheran and Cohon blood group（they all were in ac- cordance with Hardy-weinberg equilibrium）. Condusion This study reveals the genetic background of 9 red cell blood group systems in Siehuan Yi population, and provides scientific data for safe transfusion, blood donor recruitment and cor- rect blood Storage.

关 键 词：彝族 红细胞血型 基因分型 基因频率 凉山 四川 

分 类 号：R[医药卫生]