ABO血型系统中1种新A2等位基因的发现及在中国福建地区汉族人群中A2亚型调查  

Discovery of A Novel A2 Allel in ABO Blood Group System and Investigation of Its Distribution in Han Population of Chinese Fujian Province

作　　者：张爱[1] 池泉[1] 任本春[1] 

机构地区：[1]福建省血液中心,福建福州350004

出　　处：《中国实验血液学杂志》2012年第5期1243-1245,共3页Journal of Experimental Hematology

基　　金：福建省自然科学基金课题(编号2007J0261)

摘　　要：本研究探讨ABO血型系统中A2亚型在中国福建地区汉族人群中的分布频率及其分子机制。采用血清学方法鉴定1例A2亚型标本,PCR扩增ABO基因第6、7外显子及第6内含子,PCR产物经割胶纯化后直接测序,并对含有突变位点的扩增片段进行单倍体序列分析;用抗-A1单克隆血清筛查福建地区3 176例A或AB型汉族无偿献血者。结果表明,该例A2亚型的基因型鉴定为A/Olv,与A101相比,其第7外显子存在467C>T和607G>A突变,分别导致多肽链P156L和E203K替换;经标准血清学方法检测,3 176例随机A或AB型献血者(同时期健康献血者约16 527人)未检出A2亚型。结论:首次发现467C>T和607G>A组合的A2等位基因,A2亚型在福建地区汉族人群中罕见。This study was aimed to investigate the distribution of A2 subgroup in Han Population of Chinese Fujian province and its molecular mechanisms.One individual with serologic ABO blood grouping discrepancy was identified with commercially available monoclonal and polyclonal antibodies and lectin： anti-A,anti-B,anti-AB,anti-A1,and anti-H reagents according to the routine laboratory methods.DNA sequences of exon 6,7 and intron 6 of ABO gene were analyzed by polymerase chain reaction using genomic DNA and direct DNA sequencing or sequencing after gene cloning.Red cells of 3 176 A or AB unrelated individuals were tested with anti-A1.The results showed that this individual was identified as A2 subgroup by serological technology,sequencing analysis indicated the A2 subgroup with novel A variant allele,the novel A allele being different from the allele A101 by 467CT and 607GA missense mutation in exon 7,no A2 subgroup was identified from the 3 176 individuals by using standard serological technology.It is concluded that a novel A allele responsible for A2 subgroup composing of 467CT and 607GA has been firstly confirmed,and the A2 subgroup is very rare in Chinese Fujian Han population.

关 键 词：A2亚型 ABO血型系统 糖基转移酶活性 中国福建省 

分 类 号：R457.11[医药卫生—治疗学]