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目的研究新乡地区红细胞Rh D阴性汉人RHD基因(EXON1、EXON5、EXON6、EXON7、845A、845G、1227A、D9)多态性。方法应用PCR-SSP方法,对新乡地区48例血清学鉴定为Rh D阴性的汉族无偿献血者进行RHD基因分析。基因频率计算采用直接计数法。结果 48例Rh D阴性无偿献血者存在4种表型:ccdee 29例(60.4%)、Ccdee 14例(29.2%)、CCdee 3例(6.3%)、ccd Ee 2例(4.2%);其ABO血型所占比例分别为A 12例(25.0%)、B 24例(50.0%)、O 12例(25.0%);48例样本RHD基因分析发现RHD全缺失型30例,占62.5%;DEL RHD1227A杂合型12例(25.0%),均为Ccdee表型;RHD-CE(2-9)-D 4例(8.3%),为Ccdee、CCdee、ccd Ee表型;2例EXON1、845G、D9有特异性扩增,不能判断其变异类型。结论新乡地区Rh阴性汉人以B型血为主,存在部分D、DEL变异型,且变异型通常C抗原阳性。
Objective To investigate the polymorphisms of RhD-negative RHD genes (EXON1, EXON5, EXON6, EXON7, 845A, 845G, 1227A, D9) in Xinxiang area. Methods PCR-SSP method was used to analyze RHD gene in 48 serotypes of Rh D-negative Han donors in Xinxiang area. Gene frequency calculation using direct counting method. Results There were four phenotypes in 48 Rh D negative donors: ccdee in 29 cases (60.4%), Ccdee in 14 cases (29.2%), CCdee in 3 cases (6.3%) and ccdEe in 2 cases (4.2% The proportion of blood type was 12 (25.0%) in A, 24 (50.0%) in B, and 12 (25.0%) in O. The RHD gene analysis of 48 samples showed that there were 30 cases of RHD total deletion in 62.5% Heterozygous 12 cases (25.0%) were Ccdee phenotype; RHD-CE (2-9) -D 4 cases (8.3%) were Ccdee, CCdee, ccd Ee phenotype; 2 cases of EXON1,845G, D9 There is a specific amplification, can not determine the type of mutation. Conclusion The Rh-negative Han people in Xinxiang area are predominantly B-type blood with some D and DEL variants, and the mutated C-antigen is usually positive.