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目的:通过对南京地区汉族人群A血型亚型血清学和分子生物学分析,获取本地区人群A血型基因多态性的分布资料;为血清学检测存在疑问的标本提供其分子生物学的佐证。方法:随机选择符合《献血者健康检查要求》的A型和AB型无偿献血者的全血标本10 012人份,其中A型标本7 839人份、AB型标本2 173人份。采用微板法进行A亚型的血清学筛查,对血清学疑为A亚型的标本进行基因测序,确定ABO血型序列及基因型。结果:南京地区A血型亚型在A型人群中的比例为0.31%,其基因以A201亚型为主,而在AB型人群中的比例为1.80%,其基因型以A205亚型为主;在AB型人群中检出1例CisAB06和1例B(A)02,各占AB型的0.046%(1/2 169);发现1例A205/O01基因型出现nt806位杂合新突变的样本,经克隆测序证实突变位于O基因上。结论:本研究首次系统获取了南京地区汉族人群ABO血型基因多态性的分布资料,初步建立的南京地区A亚型血型基因库,可以为南京地区的临床疑难配血以及疑难血型鉴定提供服务,保证临床输血安全。
OBJECTIVE: To obtain the distribution of A blood group polymorphism in A population of Han nationality in Nanjing area by serology and molecular biology analysis, and to provide evidence for the molecular biology of the serological samples in doubt. Methods: A total of 10 012 whole blood samples of type A and type AB blood donors who meet the requirements of blood test for health examination were randomly selected, of which 7,839 were type A specimens and 2,173 were type AB specimens. Serotype A subtypes were screened by microplate method. The serotypes of serotype A subtypes were sequenced to determine the ABO blood group sequence and genotype. Results: The proportion of A subtypes in type A population in Nanjing was 0.31%. The A201 subtype was the main gene in A group, while the proportion was 1.80% in AB type. The A205 subtype was predominant in the genotype. One case of CisAB06 and one case of B (A) 02 were detected in AB population, each accounted for 0.046% (1/2 of 169) of AB genotype. One sample of heterozygous mutation at nt806 was found in one A205 / O01 genotype , Confirmed by cloning sequencing mutations in the O gene. CONCLUSIONS: This study, for the first time, systematically obtained the distribution data of ABO blood group polymorphism in Han population in Nanjing. The initially established genotype A blood bank in Nanjing can provide services for the identification of clinically difficult blood samples in Nanjing, Ensure clinical transfusion safety.