新的Rh血型弱D变异体一例  

A case with a novel weak D type

作　　者：贺云蕾 俞露 许德义 郭雯玉 邓刚 He Yunlei;Yu Lu;Xu Deyi;Guo Wenyu;Deng Gang(Ningbo Central Blood Station, Zhejiang 315000, China)

机构地区：[1]宁波市中心血站,浙江315000

出　　处：《中华医学遗传学杂志》2019年第7期731-733,共3页Chinese Journal of Medical Genetics

基　　金：宁波市医学科技计划项目(2018A07);浙江省医药卫生科技计划项目(2018KY160).

摘　　要：目的鉴定并确认在中国人中发现1例新的弱D型。方法对1例从宁波市中心血站无偿献血者中筛查出的RhD抗原弱表达标本,应用常规血清学试剂对其进行RhCE分型,应用D-screen试剂盒分析其RhD抗原表位。应用序列特异性引物聚合酶链反应检测RHD基因合子型,并对RHD基因全部外显子及邻近内含子区域进行测序分析。结果在该献血者中发现了一种新的RHD等位基因:RHD(1022T>A),其D抗原表位检测结果与弱D型血清学特征一致。结论在中国人群中发现1种新的弱D等位基因。Objective To report on a novel weak D type identified in a Chinese individual. Methods Peripheral blood sample was collected for a voluntary blood donor with weakened expression of D antigen. Routine serological testing was carried out to determine the D, C, c, E and e antigens of the Rh blood group. A D-screening kit was used to analyze the RhD epitopes. The 10 exons and flanking intronic regions of the RHD gene were sequenced. The zygosity of RHD was determined with a sequence-specific primer PCR method. Results A novel RHD allele, RHD (1022T>A), was found in the subject with a weak D phenotype. Serological testing of the RhD epitopes has coined with the weak D phenotype. Conclusion A novel weak D allele has been identified in Chinese population.

关 键 词：RH血型 弱D型 新等位基因 

分 类 号：R4[医药卫生—临床医学]