青岛及周边地区A3、B3亚型的分子机制研究  

Molecular Mechanism of A3 and B3 Blood Subtypes in Qingdao and the Surrounding Areas of China

作　　者：朱于莉 金肖君 胡彬 冯智慧 

机构地区：[1]青岛市中心血站输血研究所,山东省青岛市266071 [2]大连医科大学临床血液检验系,辽宁省大连市116027

出　　处：《医学分子生物学杂志》2017年第2期73-77,共5页Journal of Medical Molecular Biology

基　　金：青岛市市南区科技发展资金（No.2013-13-013-YY）,青岛市医疗卫生优秀人才培养项目

摘　　要：目的 分析2014年1月～2016年4月青岛及周边地区血型血清学疑似A3或B3亚型样本的分子机制.方法 采用聚合酶链反应（polymerase chain reaction,PCR）直接测序的方法分析ABO基因增强子（-3 988 bp～-3 645 bp）、启动子（-149 bp～-2 bp）、外显子1～7及侧翼序列、以及第一内含子中转录因子GATA结合位点（～＋5.8 kb）序列,对于有突变的样本再进行单倍型测序确认.结果 2014年1月～2016年4月青岛及周边地区共发现28例血清学疑似A3、B3亚型样本,占同期亚型样本的10.9 %.通过基因序列分析共发现了4例A307、2例B301、1例B310和1例B311.未发现台湾人多见的B303和日本常见的启动子和调控区域突变亚型.结论 青岛及周边地区A3亚型分子机制变化小,B3变化较大,与台湾、日本差别明显,与上海、浙江等国内省市较接近.Objective To analyze the molecular mechanism of serologically suspected A3 or B3 blood subtypes in Qingdao and the surrounding areas from Jan.2014 to Apr.2016.Methods Polymerase chain reaction （PCR） was used to directly sequence ABO gene enhancer （-3988bp - -3645bp）,promoter （-149bp - -2bp）,exons 1-7 and flanking sequence,and GATA binding site in I intron （-＋5.8kb）.Haplotype sequencing was used to confirm the mutations found in the PCR.Results In Qingdao and the surrounding areas,serologically suspected A3 or B3 was found in 28 subtype samples,which accounted for 10.9% subtype samples tested in the same period.DNA sequencing revealed 4 samples of A307,2 samples of B301,1 sample of B310 and 1 sample of B311.B303,which is more frequently seen in Taiwan Region,and the mutation in enhancer or promoter area reported in Japan were not detected in our samples.Conclusion There is small variation in A3 blood subtypes in Qingdao and the surrounding areas.In contrast,the variation of B3 subtypes is great.The Results are consistent with those found in other provinces or cities in China,like Shanghai,Zhejiang province.They are,however,different from those reported in Taiwan,China,and Japan.

关 键 词：A3亚型 B3亚型 分子机制 基因突变 地区差异 

分 类 号：R457.11[医药卫生—治疗学]