RHD^(*) 1227A等位基因在辽宁汉族Rh阴性人群和随机人群中的频率分析  

Frequency analysis of RHD^(*) 1227A allele among Rh negative Han population and random population in Liaoning

作　　者：章旭 李晓丰[1] 李剑平[1] ZHANG Xu;LI Xiaoqfeng;LI Jianping(Shenyang Central Blood Station(Liaoning Blood Center),Shenyang 110044,China)

机构地区：[1]沈阳中心血站辽宁省血液中心,辽宁沈阳110044

出　　处：《中国输血杂志》2021年第5期486-488,共3页Chinese Journal of Blood Transfusion

摘　　要：目的研究调查辽宁地区汉族RHD^(*)1227A等位基因在Rh阴性人群和随机人群中的频率。方法采用吸收放散实验筛查Del表型,RHD基因特异聚合酶链反应-序列特异性(PCR-SSP)筛查RHD^(*)1227A等位基因,RHD全编码区的核苷酸序列分析方法确认RHD^(*)1227A等位基因,杂交合子技术检测RHD基因的杂合性。结果在117例Rh阴性献血者中,吸收放散试验检测到24例Del表型,PCR-SSP方法和RHD全编码区测序共检测到23例RHD^(*)1227A等位基因携带者;23例RHD^(*)1227A等位基因携带者通过基因测序19例基因型RHD^(*)1227A/RHD^(*)01N.01,另外4例基因型是RHD^(*)1227A/RHD^(*)1227A纯合。在1 045例随机献血者中检测到11例RHD^(*)1227A等位基因携带者,9例基因型是RHD^(*)1227A/RHD^(*)01,2例基因型是RHD^(*)1227A/RHD^(*)01N.01。结论辽宁地区RHD^(*)1227A等位基因在Rh阴性人群中的频率为0.115 4,在随机人群中的频率为0.005 3。Objective To investigate the frequency of RHD^(*)1227A allele in Rh negative Han polulation and random population in Liaoning. Methods Del phenotype was screened by absorption-elution test, the RHD^(*)1227A allele was screened by PCR-SSP and confirmed by nucleotide sequence analysis of RHD full coding region, and the heterozygosity of RHD gene was detected by hybridization technique. Results 24 case of Del phenotype were detected by the absorption-elution test among 117 Rh negative individuals. 23 RHD^(*)1227A allele carriers were detected by PCR-SSP and sequencing-based typing(SBT). Genotype of 19 individuals was RHD^(*)1227A/RHD^(*)01N.01, while the other 4 was homozygous RHD^(*)1227A/RHD^(*)1227A.11 individuals were detected as RHD^(*)1227A allele among 1 045 random blood donors, among which 9 were RHD^(*)1227A/RHD^(*)01 and 2 were RHD^(*)1227A/RHD^(*)01N.01.Conclusion The frequency of RHD^(*)1227A allele is 0.115 4 in Rh negative Han population and 0.005 3 in random population in Liaoning..

关 键 词：RHD基因 D^(el)表型 RHD^(*)1227A等位基因 等位基因频率 

分 类 号：R457.1[医药卫生—治疗学] R446[医药卫生—临床医学]