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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 understand the phenotype frequency of Ax subtypes in Han nationality in Fujian province and to explore its genetic characteristics. Methods A total of 424 792 blood donors were collected from blood donors in Fujian Han nationality center from 2003 to 2009 by using microplate method. Blood donors with Ax serotypes and 50 blood donors including 30 ) Were serologically identified as normal type A and 20 (type B) anti-A attenuated) control samples, PCR amplification of ABO gene exons 6,7 and 6 introns, and amplification products were sequenced . Results A total of 9 Ax subtypes were detected in blood samples of 424 792 donors. Among these A alleles, 1 Axnew allele with 467C> T and 721C> T mutations was found, of which 3 were newly found Reported Ax09, 2 cases of A307, 2 cases of A102 and 1 case of A205 alleles. Conclusion The phenotypic frequency of Ax in Fujian population is estimated to be 0.002 1%. There is a genetic heterogeneity of Ax phenotype in Han nationality in Fujian Province. One new A allele is found that causes Ax subtypes.