ABO血型基因编码区全长序列的研究及初步应用  

Whole Code Sequences of ABO Gene and Its Application

作　　者：喻琼[1] 李云[2] 苏宇清[1] 梁延连[1] 邓志辉[1] 章昊[1] 

机构地区：[1]深圳市血液中心深圳市输血医学研究所,广东深圳518035 [2]大连医科大学检验学系,辽宁大连116000

出　　处：《中山大学学报（医学科学版）》2009年第6期793-798,共6页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：广东省医学科研基金(A2007589)

摘　　要：【目的】研究ABO血型基因编码区全长序列及对疑难标本的初步应用。【方法】对6份已知ABO血型的血样进行DNA抽提,针对ABO基因启动子、所有外显子、部分内含子序列设计、合成一系列特异性引物,探索它的最佳PCR反应体系和扩增条件,获得的PCR产物直接进行序列测定。用建立的方法对2份ABO疑难血型的标本进行全长序列测定。【结果】得到ABO基因中A101、B、O01、O02、A102常见等位基因的ABO基因编码区全长核苷酸序列。疑难标本中:正定型为O型、反定型为B型的ABO基因定为O02/O21型;表型为O型的基因定为A102/O01型。【结论】建立起中国人群的ABO基因编码区全长标准序列信息库,并可运用于ABO疑难血型基因的研究中。[Objective] To study on the whole code sequences of ABO gene and its primary application. [Methods] DNAs were extracted from 6 randomly selected samples whose ABO blood groups were known. We designed series of primers to amplify the sequences including promoter, all exons, intron 2, 5, 6 and part of intron 1, 3, 4 at ABO gene locus. PCR amplification reaction system and conditions were adjusted to the optimum. Purified PCR products were directly sequenced to determine their phenotypes. And two individuals of ABO phenotype discrepancies were analyzed their whole code sequences of ABO gene by above mentioned methods. [Results] The nucleotide sequences of common alleles at ABO gene coding region, including A101, B, 001, 002, and 102 were obtained. The genotypes of two discrepancy samples were O02/O21 and A102/001, respectively. [Conclusion] The consensus code sequence bank of ABO gene in Chinese population will be established and to apply it in the ABO blood group discrepancies between the serology and genotyping.

关 键 词：ABO血型基因 序列测定 多态性 

分 类 号：R394.4[医药卫生—医学遗传学]