先天性血型嵌合体的血清学特点和基因序列  

Serological Characteristics and Gene Sequences of Congenital Blood Group Chimera

作　　者：丁琴丽[1] 刘爱飞 邱芳[1] DING Qin-Li;LIU Ai-Fei;QIU Fang(Department of Blood Transfusion,First Affiliated Hospital of Gannan Medical University,Ganzhou 341000,Jiangxi Province,China)

机构地区：[1]江西省赣南医学院第一附属医院输血科,江西赣州341000

出　　处：《中国实验血液学杂志》2022年第4期1208-1212,共5页Journal of Experimental Hematology

摘　　要：目的:对1对龙凤胎中的弟弟出现正定型呈混合凝集的ABO正反定型不符样本进行鉴定,探讨血清学方法和基因测序在先天性血型嵌合体中的应用。方法:采用微柱凝胶法进行ABO血型鉴定、Rh和MN分型和PCR-SSP法进行ABO基因分型。结果:该患儿ABO正定型为抗A和抗B两管均有红细胞混合凝集,反定型为AB型;患儿的Rh分型为CcDEe;MN分型中的抗M和抗N两管均有红细胞混合凝集。患儿的父亲和母亲分别为正常O型和AB型。患儿本人ABO基因存在O0101、A102和B013个等位基因,O0101来自父亲,A102和B01来自母亲。结论:该名患儿体内存在A型和B型两群红细胞,由于患儿为双卵双生,这两群红细胞应该是异卵双生子之间进行了血液交换所形成的嵌合体。通过基因测序可判定该患儿是一名先天性A/B血型嵌合体。Objective:To identify the ABO positive and negative stereotypic inconsistencies in a dizygotic twin with positive stereotypic patterns and mixed agglutination,and explore the application of serological characteristics and gene sequence in congenital blood group chimeras.Methods:ABO blood group identification,Rh and MN typing were performed using the microcolumn gel method and ABO genotyping was performed using the PCR-SSP method.Results:In this patient,both anti-A and anti-B tubes had mixed hemagglutination of red blood cells,and the anti-ABO tube was AB type.The Rh typing of the patient was CcDEe.Mixed agglutination of red blood cells was observed in both anti-M and anti-N tubes in MN typing.The patient's father and mother was normal Type O and AB,respectively.There were three alleles in the ABO gene of the patient,O0101 came from his father,while A102 and B01 came from his mother.Conclusion:The patient has two groups of red blood cells(type A and B).Because the patients is a dizygotic twin,these two groups of red blood cells can be chimeras formed by blood exchange between the twins.Through gene sequencing,it can be determined that the patient is a congenital A/B blood type chimera.

关 键 词：血型嵌合体 双卵双生 血型鉴定 Rh分型 MN血型 基因测序 

分 类 号：R457.11[医药卫生—治疗学]