新疆地区249例RhD变异型基因分型研究

Analysis of 249 Cases with RhD Variant Phenotypes in Xinjiang

目的研究分析新疆地区RhD变异型标本的RHD基因分型特征。方法收集2006年1月—2023年6月常规RhD阴性确认工作中RhD抗原盐水法阴性或弱阳性、间接抗人球蛋白试验(IAT)阳性的RhD变异型标本249例,并做RhCE抗原分型,提取血液基因组DNA,采用PCR-SSP或qPCR方法对RHD基因进行分型,必要时用基因测序验证。结果249例RhD变异型标本中,检出弱D15型(RHD*15)155例(62.25%)、DⅥtype 3型(RHD*06.03.01)30例(12.05%),弱D1型(RHD*01W.1)7例(2.81%)、弱D17型(RHD*01W.17)2例(0.80%)、DⅥtype 4型(RHD*06.04)3例(1.20%)、DⅤtype 2型(RHD*05.02)9例(3.61%)、DⅢa型(RHD*03.01)1例(0.40%),以及DEL1227A(RHD*01EL.01)6例(2.41%),未能确定RHD等位基因型别,有待进一步基因测序分析的标本有36例。RHD*15的常见Rh表型为ccEe。结论新疆地区RhD变异型的RHD基因以RHD*15为最常见,并存在丰富的遗传多态性。

Objective To study and analyze the genotyping characteristics of RhD variant specimens in Xinjiang.Methods A total of 249 RhD variant specimens were collected with routine confirmatory test for RhD negative from January 2006 to June 2023.All specimens showing negative or equivocal agglutination were tested by IAT with three commercially available anti-D reagents,with D variant defined once it reacted positively with an anti-D,and RhCE phenotypic typing was performed.The genomic DNA of the D variant specimen was extracted,and the RHD genotype of the specimen was identified by PCR-SSP or qPCR.Exons of RHD gene were sequenced for verification if necessary.Results Among the 249 RhD variant specimens,155 cases(62.25%)of weak D15(RHD*15),30 cases(12.05%)of DⅥtype 3(RHD*06.03.01),7 cases(2.81%)of weak D1(RHD*01W.1),2 cases(0.80%)of weak D17(RHD*01W.17),3 cases(1.20%)of DⅥtype 4(RHD*06.04),9 cases(3.61%)of DⅤtype 2(RHD*05.02),1 case(0.40%)of DⅢa(RHD*03.01),and 6 cases(2.41%)of DEL1227A(RHD*01EL.01)were detected.There were also 36 cases with indeterminate RHD gene,which were determined by gene sequencing.The common Rh phenotype of RHD*15 is ccEe.Conclusion RHD*15 is the most common RhD variant in Xinjiang and there are rich genetic polymorphisms for this locus.