福建地区类孟买血型血清学特点及其基因突变分析  

Serological characteristics and gene mutation analysis of Para-Bombay blood group in Fujian Province

作　　者：张爱[1] 林洪铿[1] 何觅 褚晓凌[1] ZHANG Ai;LIN Hongkeng;HE Mi;CHU Xiaoling(Fujian Provincial Blood Center, Fuzhou 350004, Fujian, China)

机构地区：[1]福建省血液中心检验科,福州350004

出　　处：《临床检验杂志》2021年第8期601-604,共4页Chinese Journal of Clinical Laboratory Science

摘　　要：目的研究福建地区类孟买血型血清学特点及其分子机制。方法采用常规血清学方法对10例疑似类孟买血型样品进行红细胞表型鉴定,用吸收放散试验确证红细胞上弱表达的ABO抗原,PCR扩增ABO基因第6、7外显子及FUT1、FUT2基因编码区序列,并对PCR产物进行直接测序分析。结果血清学和分子生物学方法证实10例样品皆为罕见的类孟买血型,其中Am^(h) 5例,Bm^(h) 2例,Om^(h) 3例。10例样品ABO表型均与ABO基因型一致。检测到4种已知的FUT1无效基因:h1(547-552delAG)、h2(880-882delTT)、h3(658C>T)和h9(424C>T);FUT1基因型分别为h1/h1(3例)、h3/h1(3例)、h1/h2(2例)、h2/h2和h1/h9(各1例)。检出2种FUT2等位基因:Se^(357)和Se^(357,716);10例样品都检出Se^(357)基因,而Se^(357,716)基因仅与h2等位基因同时出现。结论血清学技术在类孟买血型早期发现中发挥重要作用。FUT1位点的无效等位基因具有较广泛的多样性,h1和h2为福建地区类孟买血型的主要流行基因。Objective To investigate the serological characteristics and gene mutation of Para-Bombay blood group in Fujian Province.Methods The red blood cell phenotype of 10 samples suspected as Para-Bombay blood group was identified by a standard serological method.The weakly expressed A/B antigens on red blood cells were demonstrated with the adsorption-elution test.The exons 6 and 7 of ABO gene and the coding regions of FUT1 and FUT2 genes were amplified by polymerase chain reaction(PCR),and PCR products were directly sequenced.Results Serological and molecular biological methods demonstrated that 10 samples belonged to Para-Bombay blood group,including 5 cases of Am^(h),2 Bm^(h) and 3 Om^(h).The ABO phenotypes of all samples were consistent with ABO genotypes.Four known FUT1 null genes,including h1(547-552delAG),h2(880-882delTT),h3(658C>T)and h9(424C>T),were detected,and five FUT1 genotypes were obtained,that is,h1/h1(n=3),h3/h1(n=3),h1/h2(n=2),h2/h2(n=1)and h1/h9(n=1).Two kinds of FUT2 alleles,Se^(357) and Se^(357,716),were identified.Se^(357) gene was detected in all samples,while Se^(357,716) gene only appeared simultaneously with h2 gene.Conclusion The serological technique play an important role in the early detection of Para-Bombay blood group.The null alleles of FUT1 loci have a wide diversity,and h1 and h2 are the main epidemic genes of Para-Bombay blood group in Fujian Province.

关 键 词：类孟买血型 FUT1基因 FUT2基因 H血型系统 

分 类 号：R446[医药卫生—诊断学]