嘉峪关市RhD阴性汉族人群基因多态性及抗体筛选调查

Genetic polymorphism and antibody screening of RhD negative Chinese Han population in Jiayuguan

目的利用分子生物学技术调查分析本地区RhD阴性人群RHD基因的多态性,对RhD阴性个体准确鉴定,制定针对不同个体的临床输血策略。方法招募RhD阴性自愿无偿献血者及患者(以孕产妇为主),经知情同意后,征询调查输血史及女性孕产史,并采集标本进行RhD阴性血清学确认、基因测序和抗体筛选鉴定。结果 96例标本中,检出73例RHD基因全缺失型,18例RHD^(*)01EL.01基因型,其中RHD1227A纯合型17例,RHD1227A杂合型1例,2例RHD^(*)15基因型,1例部分D,为RHD^(*)58基因型,2例RHD^(*)01N.16变异型。检出产生抗体者4例,其中抗-D阳性2例,抗-D和抗-E均阳性1例,抗-Di^(a)阳性1例。结论本地区RhD阴性汉族人群中DEL型比例略低于一般汉族人群数据,DEL型女性未见因怀孕或生产多胎D抗原阳性新生儿而产生抗-D或发生RhD-HDN的情况。

Objective To investigate and analyze the polymorphism of RHD gene in RhD-negative population in Jiayuguan using molecular biological technique, so as to accurately identify RhD-negative individuals, and formulate individualized transfusion strategies. Methods The RhD negative voluntary blood donors and patients(mainly pregnant women) were recruited. After informed consent, history of blood transfusion and pregnancy of them were investigated, and samples were collected for negative D confirmation, gene sequencing as well as antibody screening and identification. Results Among the 96 samples, 73 cases were RHD gene deletion,18 RHD^(*)01EL.01(17 RHD1227 A homozygous type and 1 RHD1227A heterozygous type), 2 weak RHD^(*)15 type(845 G/A), 1 partial D type, i.e. RHD-CE(7)-D heterozygous allele, and 2 RHD^(*)01N.16 variant. Antibody was detected out in 4 cases, among which 2 were positive for anti-D, 1 anti-D plus anti-E, and 1 anti-Di^(a).Conclusion The proportion of DEL gene in RhD negative Chinese Han population in Jiayuguan is slightly lower than that in general Chinese Han population. No anti-D or RHD-HDN was observed in DEL type women due to multiple pregnancy or delivery of D positive newborns.