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目的:研究南京地区表型为RhD阴性汉族人群中,RHD基因外显子1～10的多态性以及D基因外显子与C抗原表达之间的关系。方法:随机抽取血清学为RhD阴性的RhCC/Cc标本116例,Rhcc标本117例,PCR-SSP方法检测RHD外显子1、3、4、5、6、7、9、10和RHD内含子2、4v,10以及RHCE内含子2、4。结果:在116例血清学为CC/Cc的RhD阴性标本中,RHD外显子完整者有70例,占60.35%;25例(21.55%)RHD外显子完全缺失;而另有21例(18.10%)RHD外显子部分完整,其中的20例为RHD1-CE(2-9)-D10杂化基因;1例含有D1,Cin2,D9,D10,Din10基因。而在117例血清学为cc的RhD阴性标本中,6例(5.13%)RHD外显子完整;110例(94.02%)RHD外显子完全缺失;1例(0.85%)除D1缺失外,其他RHD2～10外显子均有。结论:南京地区汉族人群RHD基因表现出明显的多态性。cc表型的RHD基因外显子全部缺失的比率(94.02%)为CC/Cc的(21.55%)4倍多,而CC/Cc的RHD外显子完整的比率(60.35%)约为cc的(5.13%)12倍。RHD1-CE(2-9)-D10杂化基因均为CC或Cc表型,在RhD阴性表型中还有少数RHD基因变异型有待研究。
Objective: To investigate the polymorphisms of exon 1 ~ 10 of RHD gene and the relationship between exon and C antigen expression of RhD-negative Han population in Nanjing. Methods: A total of 116 RhCC / Cc specimens with RhD negative and 117 Rhcc specimens were selected randomly for serological detection. The RHD exons 1, 3, 4, 5, 6, 7, 9, 10 and RHD were detected by PCR-SSP 2, 4 v, 10 and RHCE intron 2, 4. RESULTS: Of the 116 RhD-negative specimens with serological CC / Cc, 70 (55%) RHD exosomes were complete, 25 (21.55%) had complete absence of RHD exon and 21 18.10%) RHD exon partial integrity, of which 20 cases of RHD1-CE (2-9) -D10 hybrid gene; 1 case contains D1, Cin2, D9, D10, Din10 gene. In 117 serologically negative RhD-negative specimens, 6 (5.13%) RHD exons were intact; 110 (94.02%) RHD exons were completely deleted; 1 (0.85% Other RHD2 ~ 10 exons are. Conclusion: The RHD gene of Han population in Nanjing shows obvious polymorphism. The percentage of total exon deletion of RHD gene (94.02%) in CC phenotype was more than 4 times that of CC / Cc (21.55%), while that of CC / Cc (60.35%) was about cc (5.13%) 12 times. RHD1-CE (2-9) -D10 hybrids are all CC or Cc phenotypes. There are a few RHD gene variants in the RhD negative phenotype to be studied.