血清学Rh（D）阴性个体分子机制的研究

目的探讨江苏地区无偿献血者中血清学Rh（D）阴性表型汉族人群的分子背景。方法 37份常规血清学试验检测出的Rh（D）阴性江苏汉族人,采用PCR-SSP检测RHCE基因和RH（D）基因;并对存在RH（D）基因的个体进行10个外显子及邻近内含子的测序。结果 37例血清学Rh（D）阴性献血者中,分子生物学方法确认26例无RH（D）基因。存在RH（D）基因的11例中,3例为RH（D）和RHCE基因发生互换,6例为RH D（K409k）（第9外显子1 227G〉A）,1例为弱D15型（第6外显子845G〉A）,1例为RH（D）＊711delC（第5外显子711位碱基缺失）。结论一定比例的血清学阴性Rh（D）人群并非真正的Rh（D）阴性,即表达弱D抗原。提示对血清学Rh（D）阴性个体进行分子生物学分析,有利于安全输血。

Molecular Basis of Rh (D)-negative individuals by serological test

Objective The purpose of the present study is to explore the molecular bases of Rh（D）--negative indi- viduals screened by serological test. Methods 37 Han Chinese from Jiangsu province, who are carefully selected from serologically defined Rh（D）--negative donors, were investigated. The sequences of RH（D） and RHCE were determined by PCR with sequence-specific primers （PCR-SSP）. The exon 1 to10 and adjacent introns of RH（D） gene were sequenced in those individuals with RH（D） gene selected by PCR-SSP. Results Of 37 serological RH（D） negative individuals, 26 per- sons completely lacked RH（D） by molecular analysis. The other 11 persons contained RH（D） gene. 3 individuals had the RH（D）--CE--D hybrid gene. 6 samples were RH D（K 409 k） （exon 9, 1 227G〉A）. 1 was weak D type15 （exon 6, 845G 〉A）. The other 1 was RH（D） ＊ 711delC （exon 5, 711deleted）. Conclusion Some apparently Rh（D）--negative Han Chinese persons actually are not ＂real＂ D--negative, which are weak D, Del or others. These findings suggested that molecular analysis of Rh（D）--negative, defined by serological tests, was important of safe transfusion.