摘要
【摘要】目的鉴定中国汉族人群中发现的1例Rh血型弱D59型。方法采用常规血清学试剂对筛查出的D变异型血型做血清学鉴定，结合12种单克隆抗体对该标本RHD抗原表位进行确认；使用PCR-SSP法对弱D型进行基因分型。对RHD基因的10个外显子及侧翼序列进行测序并分析其杂合性。结果在该标本中发现等位基因C．1148T〉C，其血清学反应格局符合弱D表型。RHD合子型鉴定其为RHD＋／RHD-杂合型。结论该先证者为中国人群中首次发现的弱D59型。
Objective To study a case with weak D59 phenotype identified among ethnic Han Chinese population. Methods Routine serological tests were used to analyze the reaction patterns, and the RhD epitopes were verified with 12 monoclonal antibodies. Sequence-specific primer PCR was applied for typing the weak RhD and RhD zygosity in the proband and his family members. Results A e. 1148T^C variant was identified in the proband, for which serological test indicated a weak D phenotype. RHD zygosity testing confirmed that the proband had a RHD＋ /RHD- genotype. Conclusion A weak D59 phenotype was firstly identified in a Chinese individual.
作者
廖昭平
徐慧英
刘春华
王蕊
项凯华
冯洁
乐芳嘉
吴婷
陶志华
Liao Zhaoping , Xu Huiying , Liu Chunhua , Wang Rui , Xiang Kaihua , Feng Jie , Le Fangjia , Wu Ting , Tao Zhihua(Department of Transfusion （Liao ZP, Liu CH, Wang R, Xiang KH, Feng J, Le FJ, Wu T）, Department of Laboratory Medicine （ Xu HY, Tao ZH ） , the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang 310009, China)
出处
《中华医学遗传学杂志》
CAS
CSCD
2018年第2期261-264,共4页
Chinese Journal of Medical Genetics
基金
国家自然基金资助项目（81271917）
浙江省自然科学基金资助项目（LY16H160023）
关键词
RH血型
弱D血型
Rh blood group
Weak D type
