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目的研究中国南方汉族人群和西藏藏族人群RHCE基因内含子2中109bp插入序列缺失情况和外显子5中733C>G多态性,并比较2民族间有无差异。方法收集186例中国南方汉族人样本和50例西藏藏族人样本,应用PCR-SSP方法对内含子2的109bp插入序列和外显子5的733C>G多态性进行检测,并用测序方法验证。结果在中国南方汉族人群中携带RhC抗原个体其RHCE基因内含子2中109bp插入序列的缺失率为1.08%,在西藏藏族人群中缺失概率为0,二者缺失率相比无统计学差异(χ2=0.02,P>0.05)。2民族所有样本RHCE基因外显子5的733位核甘酸均为G,未发现该位点存在733C>G多态性。结论 2民族在内含子2的109bp插入序列缺失和外显子5的733C>G多态性方面未发现二者有差异。在南方汉族人群中针对RHCE基因内含子2的109bp插入序列来检测RHCc基因会因缺失而导致假阴性错误。
Objective To investigate the deletion of 109bp insertions in intron 2 of RHCE gene and 733C> G polymorphism in exon 5 of Han population from southern China and Tibetans, and to compare the differences between the two ethnic groups. Methods A total of 186 Han Chinese samples from southern China and 50 Tibetan samples from Tibet were collected. The 109 bp insertion sequence of intron 2 and 733C> G polymorphism of exon 5 were detected by PCR-SSP and verified by sequencing . Results The deletion rate of 109bp insertions in intron 2 of RHCE gene was 1.08% in Chinese Han ethnic population in southern China, while the deletion probability was 0 in Tibetan Tibetan population. There was no significant difference between the two groups χ2 = 0.02, P> 0.05). All 733 nucleotides in exon 5 of RHCE gene of all ethnic groups were G, and no 733C> G polymorphism was found in this locus. Conclusion 2 ethnic differences in intron 2 109bp insertion sequence deletion and exon 5 733C> G polymorphism did not find the difference between the two. In the southern Chinese population, a 109bp insertion of RHCE gene intron 2 was used to detect RHCc gene loss due to a false-negative error.