基因分型技术首次应用于类孟买型家系ABO基因的研究  

Genotyping of ABO blood group in a family of para-Bombay type in Chinese firstly

作　　者：喻琼[1] 吴国光[1] 邓志辉[1] 梁延连[1] 苏宇清[1] 赵桐茂 

机构地区：[1]深圳市输血医学研究所,广东深圳518035 [2]美国国立卫生研究所

出　　处：《罕少疾病杂志》2003年第2期5-7,共3页Journal of Rare and Uncommon Diseases

基　　金：广东省医学科研课题基金资助项目(2001641)

摘　　要：目的探讨将基因分型技术用于解决临床输注中血型血清学难题。方法报告首次在国内用基因分型技术用于一个类孟买型家系5口人ABO基因多态性的研究。在吸收放散试验、唾液血型物质凝集抑制等血清学试验基础上,采用快速盐析法提取外周血中的DNA,用PCR-SSP法扩增ABO血型等位基因。 结果一家5人中,兄弟3人均为类孟买型,ABO基因分型分别为A102B、A102B、A102O1,而其父母血型基因与血清学血型相符合。结论ABO PCR-SSP基因分型是一种方便、快速、可靠的技术,与血型血清学相比有着显著优势。ObjectiveTo investigate the significance of ABO genotyping technique in clinical transfusion.MethodsToreport the research of ABO genotyping in a family of five people some of which are para-Bombay type in Chinese fristly.Afterserologic tests including absorption-elution tests,saliva neutralizing or inhibitor substances tests and etc were used,we studiedthe polymerase chain reaction with sequence-specific primers(PCR-SSP)based ABO genotyping using 7 designed primers toamplify ABO gene when DNA was extracted from peripheral blood by rapid salt method.ResultsThree children were para-Bombay types.The ABO types were A102B,A102B and A102O1.The genotypes of father and mother accorded with serologicaltypes.ConclusionsABO genotyping technique is a simple rapid and accurate method for determining the difficult case ofABO typing that often happens at the reference laboratory when the serologic tests are used to determine the ABO types ofindividuals.

关 键 词：基因分型技术 类孟买型 家系 ABO基因 基因多态性 PCR-SSP法 

分 类 号：R392.11[医药卫生—免疫学] R392.2[医药卫生—基础医学]