多重PCR筛选广西壮族人群稀有血型Fy（a-）、s-、k-、Di（b-）、Js（b-）  

Application of multiplex PCR for the screening of genotyping system for the rare blood groups Fy（a-）, s-, k-, Di （b-） and Js（b-）

作　　者：焦伟[1] 谢莉[2] 黎海澜[1] 蓝娇[1] 莫柱宁[1] 阳子骥[1] 刘斐[1] 肖瑞平[1] 贺云蕾[2,3] 叶璐夷[3] 朱自严[3] 

机构地区：[1]广西壮族自治区人民医院输血科,南宁530021 [2]华东师范大学生命科学院 [3]上海市血液中心输血研究所

出　　处：《中华医学遗传学杂志》2014年第2期242-246,共5页Chinese Journal of Medical Genetics

基　　金：2009年广西科学研究与技术开发计划课题（桂科攻0993003B-26）;卫生行业科研专项（201002005）;上海市公共卫生重点学科建设计划项目（12GWZX0201）

摘　　要：目的通过分子生物学方法，筛选广西壮族随机献血者样本中的Fy（a-）、s-、k-、Di（b-）、Js（b-）表型，获得壮族稀有血型资料，丰富中国稀有血型库。方法基于血型抗原Fyb、S等位基因单核苷酸多态性位点，设计序列特异性引物，优化PCR条件，建立多重PCR体系I；并使用筛选稀有血型等位基因Dib、k、Jsb1910、Jsb2019多重PCR体系Ⅱ共同对4490份广西壮族随机献血者样本进行筛选。结果成功构建检测血型抗原Fyb、S的多重PCR体系I，经验证多重PCR体系I具有良好的准确度和稳定性。使用多重PCR体系I和Ⅱ在4490份广西壮族随机献血者样本中共检出5例Fy（a-），3例S（-）及2例Di（b-）。结论多重PCR能够用于稀有血型的大规模筛选，获得的广西壮族人群稀有血型样本丰富了稀有血型数据库，为临床输注配合性血液提供了宝贵资料。Objective To screen rare blood groups Fy（a-）, s-, k-, Di（b-） and Js（b-） in an ethnic Zhuang population. Methods Sequence-specific primers were designed based on single nucleotide polymorphism （SNP） sites of blood group antigens Fyb and s. A specific multiplex PCR system I was established. Multiplex PCR system II was applied to detect alleles antigens Dib, k, Jsb 1910 and Jsb2019 at the same time. The two systems was were used to screen for rare blood group antigens in 4490 randomly selected healthy donors of Guangxi Zhuang ethnic origin. Results We successfully made the multiplex PCR system t. We detected the rare blood group antigens using the two PCR system. There are five Fy（a-）, three s（-） ,two Di（b-） in 4490 Guangxi zhuang random samples. The multiplex PCR system I has achieved good accuracy and stability. With multiplex PCR systems I and II , 4490 samples were screened. Five Fy （a-）, three s（-） and two Di（b-） samples were discovered. Conclusion Multiplex PCR is an effective methods, which can be used for high high-throughput screening of rare blood groups. The rare blood types of Guangxi Zhuang ethnic origin obtained through the screening can provide valuable information for compatible blood transfusion. Through screening we obtained precious rare blood type materials which can be used to improve the capability of compatible infusion and reduce the transfusion reactions.

关 键 词：多重聚合酶链式反应 稀有血型 序列特异性引物 基因分型 

分 类 号：R440[医药卫生—诊断学]