两例类孟买表型FUT1基因变异分析研究  

FUT1 gene variations responsible for para-Bombay phenotype,2 cases report in Chinese persons

作　　者：冯晨晨[1] 肖建宇[1] 史丽莉[1] 黄成垠[1] 丁文艺 陈青[1,2] FENG Chenchen;XAO Jianyu;SHI Lili;HUANG Chengyin;DING Wenyi;CHEN Qing(Jiangsu Proince Blood Center,Nanjing210042,China;Center for Global Health,Nanjing Medical University)

机构地区：[1]江苏省血液中心,江苏南京210042 [2]南京医科大学全球健康中心

出　　处：《中国输血杂志》2020年第12期1226-1228,共3页Chinese Journal of Blood Transfusion

基　　金：江苏省“十三五”期间“科教强卫工程”医学重点人才(ZDRCB2016010);江苏省重点研发计划社会发展项目(BE2015717);江苏省高层次卫生人才“六个一工程”拔尖人才项目(LGY2017095);江苏省第五期“333高层次人才培养工程”(2016-III-3344)。

摘　　要：目的鉴定和分析2例类孟买表型个体FUT1和FUT2基因变异情况。方法常规血清学及吸收放散方法鉴定A、B、H血型抗原;PCR扩增FUT1、FUT2、ABO基因并进行测序,TA克隆测序判断其基因型。结果 2例患者ABO血型基因型均为ABO*B.01/O.01.02。其中1例患者FUT1基因克隆测序后发现c.551_552delAG和c.881_882delTT复合杂合变异,基因型为FUT1*01N.06/FUT1*01N.13。另1例患者FUT1基因测序发现c.881_882delTT纯合变异,基因型为FUT1*01N.13/FUT1*01N.13;FUT2基因测序发现c.357C>T及c.716G>A纯合变异,基因型为FUT2*09/FUT2*09。结论分子诊断技术能够准确判断FUT1基因纯合或杂合变异致类孟买表型形成的分子机制。Objective To identify and analyze the variations of FUT1 and FUT2 genes in two individuals with para-Bombay phenotype.Methods A,Band H blood group antigens were identified by conventional serological method andadsorption-elution test.The FUT1,FUT2,and ABO genes were amplified by polymerase chain reaction(PCR)and sequenced.The genotypewas identified by TA cloning sequencing.Results The genotype of ABO blood group for both patients was ABO*B.01/O.01.02.The compound heterozygotes for c.551552 delAG and c.881882 delTT variations in the FUT1 gene were found in one individual,and the FUT1 genotype was FUT1*01N.06/FUT1*01N.13.The other individual was homozygous for c.880881 delTT variation in the FUT1 gene and homozygous for c.357 C>T and c.716 G>A variationsin the FUT2 gene,respectively;the genotype for the individual was FUT2*09/FUT2*09.Conclusion The molecular mechanism of homozygous or heterozygous variations of FUT1 gene responsible for Para-Bombay phenotype could be acurately determined by molecular diagnostic techniques.

关 键 词：类孟买型 血型鉴定 基因检测 克隆测序 

分 类 号：R457.11[医药卫生—治疗学]