中国汉族Rh血型基因多态性观察

为了观察中国汉族非血缘关系随机个体和家系Rh血型的基因多态性,采用聚合酶链反应一序列特异性引物(PCR—SSF)扩增技术,扩增Rh血型C／E基因,D基因外显子,内含子2和10,插入片段以及RhBox,检测160例Rh阳性个体,71例Rh阴性个体及7个先证为Rh阴性的家系的血样品。研究结果显示,带有C抗原的RhD阴性个体D基因结构具有多态性,D基因外显子有完整的、部分缺失和完全缺失的3种形式;先证为RhD阴性的家系中,大部分成员均出现插入片段和RhBox,且在遗传上符合孟德尔遗传定律,插入片段或RhBox并未影响D基因的表达;全部RhD阴性和阳性个体中没有发现“正常的”RhD外显子4。结论：中国人带C抗原的RhD阴性的基因结构具有多态性,具有完全缺失、部分缺失和不缺失3种情况,并可能存在特殊的D(nf)Ce单体型;本组样本不能确定插入片段和RhBox与D基因表达有关,插入片段和RhBox的生物学功能尚需进一步研究;中国汉族的Rh血型基因序列不同于白种人,应建立本民族的Rh基因库。

Observation on Gene Polymorphism of Rh Blood Group in Chinese Han Nationality

To observe the gene polymorphism of Rh blood group in unrelated random individuals and families for Chinese Han nationality, polymerase chain reaction-sequence specific primer (PCR-SSP) was used to amplify the Rh C/E gene, RhD gene, exons, intron 2 and 10, insert and Rh Box in 160 blood samples of RhD positive unrelated individuals and 71 samples of RhD negative unrelated individuals and 7 samples of families whose probands were RhD-negative. The results showed that RhD genes of RhD-negative individuals with C antigens were polymorphism, three forms were found for D exon including intact, partial deletion and complete deletion exons. Insert fragments and Rh Box were found in most cases of families whose probands were RhD-negative and its inheritance accorded with the Mendel's Law, and it did not affect the expression of RhD gene. "Normal" RhD exon 4 amplifying product was not found in all of the samples. It was concluded that gene structure of the RhD-negative in Chinese was polymorphism, intact, partial deletion and complete deletion exons were found in the individuals with C antigen and probably existed specific D (nf) Ce haplotype. The function of insert was uncertain. The Rh gene sequences of Chinese Han nationality are different from those of Caucasian and the Rh gene library based on Han nationality should be established.