新乡地区48例RhD阴性汉人RHD基因多态性研究  

Polymorphism of RHD genes among RhD negative individuals in the Xinxiang Han donors

作　　者：孙学兰[1] 崔珍[1] 庞桂芝 朱明武[1] 程睿[1] 张晨光[1] 

机构地区：[1]新乡医学院医学检验学院分子诊断与医学检验技术河南省协同创新中心,河南新乡453003 [2]新乡市中心血站,河南新乡453000

出　　处：《现代预防医学》2016年第10期1855-1858,共4页Modern Preventive Medicine

基　　金：河南省高等学校重点科研项目(15A320061);新乡医学院科研培育基金项目(2014ZD111);新乡医学院研究生和大学生创新课题(YJSCX20402Z;201410472037;201310472029)

摘　　要：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 The aim of this study was to study the polymorphism of RHD genes （EXON1, EXON5, EXON6, EXON7, 845A, 845G, 1227A and D9） among RhD negative Han donors in Xinxiang area. Methods The RHD genes of 48 RhD negative voluntary blood donors were amplified by polymerase chain reaction with sequence specific primers （PCR - SSP）. Frequencies of RHD genotype were studied by direct counting method. Results Among 48 RhD negative individuals, there were four Rh phenotypes： 29 cases of ccdee （60.4%）, 14 cases of Cedee （29.2%）, three cases of CCdee （6.25%）, and two cases of ecdEe （4. 2% ）. Among all Rh negative samples, as for ABO blood group, there was 12 cases of A blood type （25%）, 24 cases of B blood type （50%）, and 12 cases of O blood type （25%）. There were 30 cases of genuine RhD - negative containing RHD gene deletion （62.5%）, 12 cases （25%） of DEL RHD1227A heterozygosity altogether with Ccdee phenotype, four cases （8.33%） of RHD - CE（2 -9） - D altogether with Ccdee, CCdee and ccdEe phenotype. In addition, two cases variants of EXON1, 845G and D9 were amplified, and the type of mutation could not be determined. Conclusion There were some D, DEL variants among Rh -negative blood donors with B type blood in Xinxiang area, and the variant was usually positive C antigen.

关 键 词：RHD阴性 RHD基因 PCR-SSP 多态性 

分 类 号：R319[医药卫生—基础医学]