福建省汉族人群Ax亚型分子遗传学分析——附1例新的α1,3-N-乙酰半乳糖胺基转移酶等位基因  

Molecular genetics analysis of Ax phenotype in Fujian Han population

作　　者：张爱[1] 池泉[1] 郭永建[1] 任本春[1] 

机构地区：[1]福建省血液中心,福建福州350002

出　　处：《中国输血杂志》2011年第5期391-394,共4页Chinese Journal of Blood Transfusion

基　　金：福建省自然科学基金(2007J0261)

摘　　要：目的了解福建省汉族人群中Ax亚型的表型频率,探讨其遗传学特征。方法用微板法对本中心2003~2009年的福建汉族献血者共424 792人（份）作血液标本筛查,对血清学表现为Ax亚型的献血者标本和50例（包括30人（份）血清学鉴定为正常A型及20人（份）B型抗-A减弱）对照标本,采用PCR扩增ABO基因第6、7外显子及第6内含子,并对扩增产物测序。结果从424 792份献血者血样中共检出9例Ax亚型,从这些个体的A等位基因中,新发现1例存在467C〉T、721C〉T突变的Axnew等位基因,3例为已报道的Ax09、2例为A307、2例为A102以及1例A205等位基因。结论福建省人群中Ax的表型频率估计约为0.002 1%,Ax表现型在福建省汉族人群中存在遗传异质性;发现1个新的引起Ax亚型的A等位基因。Objective To study the frequency of Ax phenotype in blood donor population and the genetic characteristics of these individuals.Methods The Ax phenotype was screened with ABO micro-plate blood group testing method.DNA were sequenced for these Ax individuals.Results Of 424 792 blood donors,nine individuals were identified to be Ax phenotype.Sequencing analysis showed one Ax individual with novel A variant allele,different from the allele A101 by 467CT,721CT missense mutations in exon 7;three Ax with reported Ax09 allele,two Ax with A307 allele,two Ax with A102 allele,and one Ax with A205 allele.Conclusion The frequency of Ax phenotype in Fujian population is about 0.0021%.Molecular bases for the Ax phenotype in Fujian Han population shows high polymorphism.

关 键 词：ABO血型 亚型 PCR 直接测序 糖基转移酶 等位基因 遗传学 福建汉族 

分 类 号：R457.11[医药卫生—治疗学]