类孟买血型FUT1、FUT2基因突变及家系遗传分析  

Mutation of FUT1 and FUT2 of para-Bombay phenotypes and pedigree genetic analysis

作　　者：刘秋菊 蒋贤国 LIU Qiuju;JIANG Xianguo(Department of Blood Transfusion,the People’s Hospital of Cangnan County,Wenzhou 325800,China)

机构地区：[1]苍南县人民医院输血科,浙江温州325800

出　　处：《温州医科大学学报》2022年第3期230-232,236,共4页Journal of Wenzhou Medical University

基　　金：苍南县社会(医卫)科技项目(2021S09)。

摘　　要：目的:分析1个罕见类孟买血型FUT1、FUT2基因突变及家系遗传机制。方法:选取2019年12月22日就诊于苍南县人民医院的1例类孟买血型患者,采用试管凝集法鉴定ABO、H血型,采用吸收放散试验鉴定红细胞上ABO弱抗原,采用PCR-SBT法鉴定ABO血型基因型并对FUT1、FUT2基因进行测序分析,同时抽取其妻子、女儿静脉血液待检。结果:先证者和女儿血型为Amh型、H抗原阴性,直接测序FUT1 c.551-552del AG,FUT2 c.357C>T、c.385A>T;其妻子血型为A型、H抗原阳性;ABO血型基因型3人均为ABO*A1.02/O.01.02。结论:先证者FUT1、FUT2基因遗传给其女儿。Objective: To analyze the mutation of FUT1 and FUT2 genes of a rare para-Bombay phenotype and its genealogy. Methods: A patient with para-Bombay blood type treated in the People’s Hospital of Cangnan County on December 22, 2019 was selected. Tube agglutination method was used for ABO blood type and H antigen testing. ABO week antigens on red blood cells were determined by erythrocytes absorption-radiation testing. PCR-SBT method was used to sequence the gene of FUT1 and TUT2, and venous blood samples of his wife and daughter were extracted for examination. Results: The blood type of proband and his daughter was Amh type, H antigen negative. Direct sequencing results showed FUT1 c.551-552delAG, FUT2 c.357C>T, c.385A>T.His wife’s blood type was A, H antigen positive;ABO blood group genotypes were all ABO*A1.02/O.01.02.Conclusion: FUT1 and FUT2 genes of proband were inherited to his daughter.

关 键 词：类孟买血型 FUT1基因 FUT2基因 

分 类 号：R457.1[医药卫生—治疗学]