SNaPshot技术应用于西藏高原人群Duffy血型基因分型

Duffy blood group system genotyping in plateau Tibetan population via SNaPshot technique

目的应用SNaPshot技术对Duffy血型进行基因型检测,对西藏高原人群Duffy血型的分布进行研究,为临床输血工作提供指导依据。方法采集725份西藏高原人群静脉血,提取DNA,进行引物合成与PCR扩增,再通过SNaPshot检测技术对Duffy血型第125位的SNP位点进行检测,计算遗传学相关参数,并与文献公布的各地区人群及千人基因组计划公布的非洲、东亚、欧洲、南亚、美国等人群和遗传基因组数据库公布的非洲、东亚、其他、美国以及犹太人的基因频率数据进行比较。结果 725份血液标本中Fya+b-、Fya-b+和Fya+b+的表型分别为629例(86.76%)、16例(2.21%)和80例(11.03%),FYa和FYb的基因频率分别为92.28%和7.72%。与各人群基因频率相比,在国内各地区不同民族之间的血型等位基因频率没有明显差异,在亚洲人群中的差异不明显,但与非洲、欧洲、南亚、美国、犹太人相比有显著差异。结论西藏高原人群的Duffy血型分布与国内各地区人群分布一致,但与其他种族人群有明显差异。

Objective To study the distribution of Duffy blood group in plateau Tibetan populations uisng SNaPshot genotyping technology. Methods DNA were extracted from the peripheral blood samples of 725 unrelated individuals in plateau population. Primer synthesis and PCR amplification were performed, and SNP loci of the 125 th nucleotide position was detected using SNaPshot technique. The relevant genetics parameters were calculated, and then compared with the gene frequency data of different populations published in the literature, populations in Africa, east Asia, Europe, South Asia and the United States revealed by the 1 000-genome Project and the genetic genome databases in Africa, east Asia, the United States, Jews and other countries. Results Among all the 725 blood samples, the phenotype Fy(a+b-) was the most common(n=629,86.76%), followed by Fy(a+b+)(n=80, 11.03%) and Fy(a-b+)(n=16, 2.21%). The gene frequency of FY^a and FY^b was 92.28% and 7.72%. There was no significant difference in allele frequency in comparison to neither other ethnic categories domestically nor east Asian populations, but significant differences was observed in comparison to African, European, south Asian, American and Jewish populations.Conclusion The distribution of Duffy blood type in Tibetan plateau population is consistent with that in other regions of China, but different from other racial groups.