Rh C/E缺失型的分析—附1例血型报道  

Analysis of Rh C/E deletion type with a report of one blood type

作　　者：肖艳 张雪睿[1] 冯文斌[1] 周清[1] 陈荣华 兰炯采[2] XIAO Yan;ZHANG Xuerui;FENG Wenbin

机构地区：[1]北海市人民医院输血科,广西北海536000 [2]南方医科大学南方医院

出　　处：《临床血液学杂志（输血与检验）》2020年第3期433-434,440,共3页Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)

摘　　要：Rh C/E缺失型(RhD--)于1950年由Race等报道,它是Rh血型系统中一种十分罕见的基因变异型,其红细胞表面只表达D抗原,而C、c、E和e抗原均缺失。本文对1例RhD--患儿进行血清学和基因研究,报告如下。1 材料与方法1.1 临床资料患儿,女,1岁,当地医院心脏彩超提示动脉导管未闭,贫血原因待查。2009年7月31日转至某院就诊。To study the serology and molecular biology of a patient with RhD--deletion,we identified of ABO and Rh phenotypes in a RhD-deleted patient by using serological techniques.PCR-SSP technique was used to detect RhDCE gene for the patient.The blood group of the patient was type A,the patient’s serological Rh blood type was D--;PCR-SSP genotyping showed that the patient had RHDCE bands;the patient had no deletions of exons 1-10 of RHD gene,and the patients had exons 5 and 6 of RHCE gene deletion.This case suggests that the deletion of exon 5 and 6 may lead to the inability of RHCE gene to express the corresponding antigen.

关 键 词：RH血型 Rh表型 Rh C/E缺失 

分 类 号：R457.1[医药卫生—治疗学]