徐州汉族人ABO血型及HAB分泌型基因分型研究

Genotyping of ABO blood group and Its secretor status by PCR-SSP in Xuzhou Han population of Chinese

目的 研究徐州汉族人群ABO血型及HAB分泌型基因多态性分布特征并用于解决临床输血中血型血清学鉴定难题。方法 用快速盐析法提取外周血标本中的DNA ,用PCR SSP扩增ABO血型、HAB分泌型等位基因。结果 1 0 4名健康、无血源关系的徐州汉族人ABO血型基因频率分别为A1:0 .1 53 8,A2 :0 .0 962 ,B :0 .2 4 52 ,O1:0 .50 4 8,O2 :未检测到 ( χ2 =6.73 2 3 ,P >0 .2 5,符合Hardy Weinberg公式 ) ;HAB分泌型基因频率分别为分泌基因Se:0 .980 8,非分泌基因se:0 .0 1 92 ( χ2 =0 .0 4 2 1 ,P >0 .75,符合Hardy Weinberg公式 )。 1份用血清学方法不能确定ABO血型的标本 ,用基因分型定为BO1型。结论 PCR SSP是一种方便、可靠的血型基因定型技术 ,与血型血清学方法相比本文非分泌基因se的频率显著偏低 ,4例血清学定为非分泌型个体用该方法鉴定基因型为Se/Se,间接提示G4 4 7A和G757A突变不能完全覆盖我国汉族人群的非分泌基因se。

Objective To detect the human ABO blood group and HAB secretor alleles and study the polymorphism distribution in Xuzhou Han population in China and designate ABO alleles of one sample with uncertain serological result.Methods DNA was extracted from peripheral blood by rapid salt method and a PCR SSP based method was introduced to analyse the genotypes of ABO blood group and its secretor status.Results ABO allele frequencies of 104 healthy and unrelated Xuzhou Han individuals were 0.1538 for A 1,0.0962 for A 2,0.2452 for B ,0.5048 for O 1 and that for O 2 was not found (χ 2=6.7323, P >0.25,the data fit Hardy Weinberg distribution).The frequencies of HAB secretor allele ( Se ) and non secretor allelese (se) were 0.9808 and 0.0192 respectively(χ 2=0.0421, P >0.75,the data fit Hardy Weinberg distribution).A patient whose ABO blood group could not be determined by the routine serological method,was readily detected as BO 1 by PCR SSP.Conclusion PCR SSP is a convenient and reliable method for ABO blood system analysis.Compared to the serological method,the frequency of se in our study is lower.Four individuals previously detected as non secretor phenotypes by serological techniques were designated as Se/Se genotypes,which suggests indirectly that the mutation of G447A and G757A can not cover all the se genes in Chinese Han population.