| Aims:To investigate the distribution of ABO phenotypes, genotypes and alleles, and elucidate their genetic backgroud in the Tibetan population. To elucidate the molecular mechanism of ABO、MNS、Duffy、Diego、Lutheran Kidd、Dombrock and Colton Blood Groups in Sichuan Yi population, and investigate their gene frequencies.Methods:The ABO blood group phenotypes were determinded by standard serologic techniques for four hundred and three Tibetan individuals from Tibet Autonomous Region of China. The ABO genotypes were analysed by polymerase chain reaction sequence-based typing (PCR-SBT) for sequencing exon6, exon7, intron5, and intron6. The two haplotypes including new alleles were separated by molecular cloning. The ABO blood groups of120samples were genotyped as the method of above, and the others were genotyped by PCR-SSP.Results:(i) The results of ABO phenotypes of403blood samples from Lhasa blood center were as follows:group A, B, O and AB were69(17.1%),160(39.7%),150(37.3%) and24(6.0%) respectively.The distribution of ABO phenotypes was B>O>A>AB。The phenotypes inferring from genotypes of the samples were almost consistent with the serotypes except one with phenotype of CisAB06/O01. Seventeen alleles were identified with six common alleles(A101, A102, A105, B101, O01and O02) and ten other alleles (CisAB06, AxO2,004,005, O07, Oil,026,056and O61, Ox1,Ox2and Ox3; the last three were first found in the study). The results show that O01(38.09%) is the most common allele in the population, following by B101(27.42%) and O02allele (21.09%). A105is the most common A allele, the frequency of which is a little higher than A102(6.33%>5.08%); the A101allele is just found in two individuals with the frequency of0.25%.(ii) In the unrelated120samples, five common ABO alleles were identified:A101[0.0208(5/240)]、A102[0.1666(40/240)], B101[0.2458(59/240)], O01[0.3042(73/240)]'O02[0.2625(63/240)]. The allele frequencies of other seven blood groups are as follows:M=0.6833(164/240), N=0.3167(76/240),S=0.0917(22/240)'s=0.9083(218/240); Lua=0(0/240), Lub=1(240/240); Fya=0.9458(227/240), Fyb=0.0292(7/240), FyES=0.0250(6/240); Jka=0.5250(126/240), Jkb=0.4750(114/240); Dia=0.0167(4/240), Dib=0.9833(236/240); Doa=0.1208(29/240), Dob=0.8792(211/240); Coa=1(240/240), Cob=0(0/240). There was a good fit to Hardy-Weinberg equilibrium. Conclusions:(i) In the study we obtained the distribution of ABO blood group phenotypes, genotypes and alleles of the Tibetan population. The distribution of ABO alleles of the Tibetan population are as follows:0(60.67%)> B(27.54%)> A(11.79%), which is obvious different from that of the Chinese Han population, but similar to that of the Indian Tibetan population. Sixteen alleles were identified in the study, with10rare alleles (total frequency<1.6%) including three novel O alleles which were not described in the former article.(ii)And this study reveals the genetic background of8red cell blood group systems in the Yi population of Liangshan region of Sichuan:The allele frequencies of the MNS and Diego are consistent with the data of population in the south China; The Yi population also shows the genetic specility of their own race:the frequency of the A gene is significantly lower, FyES gene exists, Jka gene is the predominant Kidd allele, and the frequency of Doa gene is a little higher. There is no difference among the Lutheran and Colton blood group gene frequencies. This study provides scientific datas for safe transfusion, blood donor recruitment and correct blood Storage. |
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