H抗原缺乏血型个体FUT1和FUT2基因的序列分析  

Sequencing analysis of FUT1 and FUT2 gene in H-deficient phenotype individuals

作　　者：苏宇清[1] 粱延连[1] 喻琼[1] 张印则[1] 

机构地区：[1]深圳市血液中心深圳市输血医学研究所,518035

出　　处：《国际输血及血液学杂志》2015年第6期492-495,共4页International Journal of Blood Transfusion and Hematology

基　　金：深圳市科技资助项目（200703227）

摘　　要：目的 探讨H抗原缺乏血型个体的FUT1和FUT2基因分型及测序结果.方法 选择2005-2014年深圳血液中心检出的13例H抗原缺乏血型个体为研究对象.采用常规血型血清学红细胞抗原、抗体凝集试验,对研究对象血液样本进行ABO正、反定型,Lewis血型及H抗原的鉴定;其中A或B抗原弱表达的样本,采用吸收及放散试验方法进行进一步抗原特异性鉴定.采用唾液凝集抑制试验,检测研究对象唾液样本中的ABH抗原物质.采用序列特异性引物聚合酶链反应（PCR-SSP）、DNA直接测序及克隆测序的分子生物学方法,分析研究对象血液样本DNA的FUT1和FUT2基因序列.结果 13例H抗原缺失血型个体中有10例为H抗原缺乏-分泌型血型,2例为H抗原部分缺乏-分泌型血型,1例为H抗原缺乏-非分泌型血型.13例H抗原缺乏血型个体中FUT1基因型分布如下：3例为h547-552delAG/h547-552delAG,4例为h880-882delAG/h547-552delAG,2例为h880-882delTT/h880-882delTT,1例为h328G＞A/h360-400delGGTATTCCGCATCACCCTGCCCGTGCTGGCCCC（共33个碱基）,1例为h328G＞A/h880-882delTT,1例为h35C＞ T/h328G＞ A;658C＞T,1例h658C＞T/h658C＞T.13例H抗原缺乏血型个体样本的FUT2基因型分布如下：4例为正常野生型Se357 Se357,7例为Se357 se357,385,1例为Se357,716 Se357,716,1例为se357,385 se357,385.结论 FUT1和FUT2基因的点突变和碱基缺失是H抗原缺乏血型的分子基础.Objective To explore genotyping and sequences of FUT1 and FUT2 gene in H-deficient phenotype individuals.Methods From 2005 to 2014,13 individuals who were detected H-deficient phenotype in Shenzhen Blood Center were included in this study.Peripheral blood samples were routinely subjected to the ABO,H,and Lewis blood group typing by agglutination tests.The adsorption-elution test was determined for trace amounts of ABH antigens.ABH antigens were detected in saliva samples by saliva agglutination inhibition test.13 DNA samples were studied by polymerase chain reaction-sequence specific primer （PCR-SSP）,DNA sequencing and cloning sequencing methods,and then sequencing analysis of FUT1 and FUT2 allele.Results There were 10 H-deficient secretor phenotype,2 H-partially deficient secretor phenotype,and 1 H-deficient non-secretor phenotype in these 13 H-deficient individuals.The FUT1 genotypes of 13 H-deficient phenotype individuals were h547-552delAG/h547-552delAG in 3 individuals,h880-882delAG/h547-552delAG in 4 individuals,h880-882delTT/h880-882delTT in 2 individuals,h328G〉A/h360-400delGGTATTCCGCATCACCCTGCCCGTGCTGGCCCC in 1 individual,h328G〉A/h880-882delTT in 1 individual,h35C〉T/h328G〉A;658C〉T in 1 individual,h658C〉T/h658C〉T in 1 individual.The FUT2 genotypes of 13 H-deficient phenotype individuals were Se357 Se357 in 4 individuals,Se357 se357,385 as wild-type gene in 7 individuals,Se357,716 Se357,716 in 1 individual,se357,385 se357,385 in 1 individual.Conclusion Point mutation and deletion of FUT1 and FUT2 gene are the molecular basis of H-deficient phenotype.

关 键 词：表型 岩藻糖基转移酶 中国 人群 FUT1基因 FUT2基因 

分 类 号：R446.6[医药卫生—诊断学]