罕见Rh血型弱D变异体的分子机制研究  

Molecular genetic analysis of two individuals with weak D variant of the Rh blood type

作　　者：贺云蕾 俞露 许德义 张继伟 邓刚 He Yunlei;Yu Lu;Xu Deyi;Zhang Jiwei;Deng Gang(Ningbo Central Blood Station,Ningbo,Zhejiang 315000,China)

机构地区：[1]宁波市中心血站,315000

出　　处：《中华医学遗传学杂志》2021年第5期492-495,共4页Chinese Journal of Medical Genetics

基　　金：宁波市科技计划项目(2019C50075)。

摘　　要：目的分析2例罕见弱D型献血者的分子机制。方法采用常规血清学方法检测Rh血型D、E、C、c和e 5个抗原表型,间接抗人球蛋白试验确认D抗原;用PCR特异性扩增RHD基因的10个外显子及邻近内含子区域,并测序分析其编码序列。用PCR扩增检测融合Rh盒子以分析RHD基因杂合性。结果抗人球试验显示2例献血者样本均为D弱阳性。RHD基因外显子测序结果显示1号样本第2外显子存在208 C>T杂合突变,第9外显子存在1227G>A杂合突变;2号样本第5外显子存在779 A>G纯合突变。1号样本为RHD+/RHD+型,2号样本为RHD+/RHD-杂合型,与测序结果一致。根据Rhesus Base的命名规则,1号样本为弱D122型,2号样本为弱D149型。结论献血者初筛D阴性样本,进一步做D抗原阴性确认试验及分子生物学分析将有利于安全输血。Objective To explore the molecular basis of two individuals with weak D variant of the Rh blood type.Methods Routine serological testing was carried out to detect the D,C,c,E and e antigens of the Rh blood group.The D antigen was further detected with an indirect antiglobulin test.The presence of Rhesus box was detected by PCR to determine the homozygosity of the RHD gene.Results Both samples were determined as weak D phenotype by the indirect antiglobulin test.DNA sequencing revealed that case 1 harbored a heterozygous 208C>T variant in exon 2 and a heterozygous 1227G>A variant in exon 9;while case 2 harbored homozygous 779A>G variants of exon 5 of the RHD gene.Case 1 was determined as RHD+/RHD+,while case 2 was determined as RHD+/RHD-.The two samples were respectively named as weak D type 122 and weak D type 149 based on the rules of Rhesus Base Nomenclature.Conclusion D negative blood donors should subject to indirect antiglobulin testing and molecular analysis for safer transfusion.

关 键 词：RH血型 弱D型 突变 

分 类 号：R446.6[医药卫生—诊断学]