洛阳献血者Rh抗原和基因多态性研究

Investigation of the Distribution Frequencies of Rh Antigens and Genotypes Variants in Blood Donnors in Luoyang

目的通过观察随机选择的献血者人群Rh表型频率，从表型推测RHCE基因频率，从而估测Rh单倍型频率。分析RH基因的遗传学特征和抗原多态性，为Rh血型在中国临床输血医学和产科学的应用提供理论依据。方法统计2005年1月～2011年12月356071例捐献全血的献血者中的RHD阴性数据，随机选择10373例RHD阳性献血者检测RhCE血清学表型。利用哈德～伯格遗传平衡定律检测吻合度，用方根法计算Rh基因频率和单倍型频率，妒检验分析不同分类的差异。结果Rh血型基因和单倍型频率为D：0．9329、d：0．0671、DCe：0．6153、DeE：0．2704，Dce：0．0341、DCE：0．0132、dCe：0．0123、dCE：0．0006、dcE：0．0024、dee：0．0518，与中国汉族人在基因平衡条件下的差异无统计学意义（x^2=13．16，P〉0．05）。RHCE基因和单倍型频率在不同RhD表达类型中的分布差异有统计学意义（P〈0．05）。结论本研究准确估计了RH等位基因频率，证实了估测的单倍型频率的可靠性，血清学检测中携带RhC和／或RhE抗原的表型与不同表达的RhD类型有关。该结果可以代表中国汉族人的Rh抗原和基因多态性特点。需要制定标准的弱D定型方法和合理的输血策略，以避免抗球蛋白试验对弱D抗原的漏检。

Objective The purpose of the study was to document the RH alleles frequencies and to inferred Rhesus haplotype frequencies by the observation of phenotypes from random blood donnors. RH genetics charateristics and anti- gens structures was analyzed regarding the blood transfusion and obstetrical settings services in China. Methods RhD negative data of 356 071 blood donors who made successful whole blood（WB） donation（s） between january 2005 and De- cember 2011 were reviewed, of these, a subset of 10 373 random RhD positive WB donors who donated RhCE serologically typed. Goodness-of-fit statistics were calculated for the Hardy-Weinberg equilibrium. RH allele frequencies and haplotype frequencies were derived by the square-root method. Heterogeneity tests between types were calculated using the chi- square test. Results The frequency of Rhesus haplotype were： D：0.932 9,d：0.067 1, DCe：0.615 3,DcE：0.270 4,Dce： 0. 034 1,DCE..0. 013 2,dCe：0. 012 3,dCE：0. 000 6,dcE：0. 002 4,dce：0. 051 8. There was no statistically significant differ- ence of Rh haplotype frequencies distribution and proportion from Han ethnic groups in China under the Hardy Weinberg law（P〉0.05）. Overall frequencies of RHCE alleles and haplotype belonging to the different various RhD blood groups al- so varied significantly （P〈0.05） over the period of the study. We observed a serologic diversity related to the RhC/E phenotype for rare weak RhD typing. Conelusion We presented refined estimates of RH alleles frequencies and established reliable frequency estimates for Rhesus haplotype. Our results are representative of the distribution of these genetic vari- ants in Han ethnicity in China. It is necessary to detect rare weak RhD typing in transfusion therapy, which obviates the need for an antiglobulin test.