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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 序列特异性引物 (PCR SSP)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 16 0例Rh阳性个体 ,71例Rh阴性个体及 7个先证者为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 ;先证者为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阴性者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基因文库。
In order to observe the genetic polymorphisms of Rh blood group in non-kinship Han individuals and their families in China, polymerase chain reaction sequence-specific primers (PCR SSP) were used to amplify Rh blood C / E gene, D gene exon , Intron 2 and 10, insert and RhBox, 16O Rh positive individuals, 71 Rh negative individuals and 7 blood samples of Rh-negative family members. The results showed that RhD negative individuals with C antigen D gene structure polymorphism, D gene exon with complete, partial deletion and complete deletion of the three forms; proband for the RhD negative family, large Some of the members appeared insertions and RhBox, and genetically met the Mendelian law of inheritance. The insert or RhBox did not affect the expression of D gene. No “normal” RhD exon 4 was found in all RhD negative and positive individuals. CONCLUSION: The gene structure of RhD-negative patients with C antigen in Chinese is polymorphic with three cases of complete deletion, partial deletion and non-deletion, and may have a special D (nf) Ce haplotype. The sample of this group can not It is necessary to further study the biological function of the inserted fragment and RhBox. The Rh genotype of Chinese Han is different from that of Caucasians. The Rh gene library should be established.