摘要
目的:探讨伴免疫性抗-Rh29的Rh_(null)血清学特征及罕见基因序列。方法:微柱凝胶法进行ABO和RhCcDEe血型检测、意外抗体鉴定和交叉配血。PCR-SSP法对RHD/RHCE基因进行分型和测序,荧光PCR法对RHAG基因进行测序。流式细胞术检测4种Rh复合物相关抗原或蛋白。结果:患者ABO血型为A型,Rh表型为C-c-D-E-e,出现贫血症状,血涂片中球形红细胞和口型红细胞比例分别为6.0%和0.8%,RH基因型为CCDee,并产生免疫性抗-Rh29高频抗原抗体。RHAG基因测序显示外显子8、9、10缺失。结论:本研究中,“调节”型Rh_(null)产生的机制由RHAG基因中外显子8、9、10缺失引起。
Objective:To investigate serological characteristics of Rh_(null) with anti-Rh29 and its rare gene sequence.Methods:Microcolumn gel method was used for ABO and RhCcDEe blood typing,accidental antibody identification and cross matching.RHD/RHCE genotype and sequencing analysis were performed by PCR-SSP method.RHAG gene was sequenced by fluorescence PCR method.Antigen or protein associated with Rh complex was detected by flow cytometry.Results:Blood group of the patient was A,Rh pheno-type was typed as group C-c-D-E-e,presented with symptoms of anemia,proportion of globular and oral erythrocytes in blood smear was 6.0%and 0.8%,respectively,RH genotype was CCDee,and immune anti-Rh29 high-frequency antigen were developed.RHAG gene sequencing revealed exons 8,9 and 10 deletion.Conclusion:Mechanism of"regulator"type Rh_(null) generation in this study is caused by deletion of exons 8,9 and 10 in RHAG gene.
作者
于琴
陈胜
张新逸
屈琳
刘凤霞
YU Qin;CHEN Sheng;ZHANG Xinyi;QU Lin;LIU Fengxia(Department of Blood Transfusion,the Third Xiangya Hospital,Central South University,Changsha 410013,China;Department of Blood Transfusion,Zhangjiajie People's Hospital,Zhangjiajie 427000,China;Laboratory of the Third Xiangya Hospital of Central South University,Changsha 410013,China)
出处
《中国免疫学杂志》
北大核心
2025年第8期1985-1988,1996,共5页
Chinese Journal of Immunology
基金
湖南省自然科学基金面上项目(2022JJ30900)。
