南京地区汉族人群红细胞A血型亚型分子生物学研究  

Analysis and research on molecular mechanisms of A subgroups in Nanjing Han population

作　　者：陈妍[1] 马玲[1] 朱绍汶[1] 史丽莉[1] 刘衍春[1] 陈宝安[2] 

机构地区：[1]江苏省血液中心,南京210042 [2]东南大学医学院附属中大医院

出　　处：《临床血液学杂志（输血与检验）》2016年第5期773-776,共4页Journal of Clinical Hematology(Blood Transfusion & Laboratory Medicine)

摘　　要：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 polymorphism data of A alleles in Nanjing Han population by the large sample size genetic analysis on A blood group, and provide gene molecular evidence for doubtful samples on serology detection. Method：10 012 samples （7 839 A samples and 2 173 AB samples） were collected from the random volunteer donors. The donors all met with the blood screening requirements. Micro-plate method was adopted to screen serology on A subtype. Genomic DNA was isolated from the weak agglutinate and inagglutinate samples. The exon 6-7 sequence of ABO was determined. The standard sequences for ABO were obtained by comparing with the A101 sequence and the ABO blood group genotypes were specified. Result：In Nanjing area, the proportion of A subtype in A blood group was approximately 0.31% and the main A subtype was A201, that in AB blood group was 1.80% and the main A subtype was A205. The ratio of either CisAB or B（A） in Nanjing Han popμlation was 4.6/100 000. A sample with a nt806 heterozygous mutation in a A205/O01 genotype was found. It was proved that the mutation was on O haploid gene by clone sequencing. Conclusion： The distribution data of blood group gene polymorphism in the Han population of Nanjing area was obtained for the first time, and A subtype gene bank which was preliminarily established in Nanjing could provide service for difficult blood matching and blood typing, which could ensure the safety of clinical blood transfusion.

关 键 词：ABO血型 A血型亚型 基因测序 

分 类 号：R457.1[医药卫生—治疗学]