中国壮族人群Lutheran缺失表型的EKLF/KLF1基因多态性研究  

Research on the polymorphism of EKLF /KLF1 gene in Lutheran deficient phenotype among Chinese Zhuang population

作　　者：王晨[1] 焦伟[2] 黎海澜[2] 叶璐夷[1] 朱自严[1] 

机构地区：[1]上海市血液中心,上海200051 [2]广西壮族自治区人民医院,广西南宁530021

出　　处：《检验医学》2013年第12期1124-1127,共4页Laboratory Medicine

基　　金：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项目(12GWZX0201);上海市卫生局科研课题资助(2010027)

摘　　要：目的针对中国壮族人群中的Lu(a-b-)表型,检测其相关的EKLF/KLF1调控基因,以揭示其分子机理和遗传背景。方法对4 527名壮族人群中筛查出的22名Lu(b-)表型的先证者进行家系调查,血清学筛查家系中Lu(a-b-)个体,扩增其EKLF/KLF1调控基因的3个外显子,测序分析其遗传背景。结果在22个家系中包括先证者共检测出Lu(a-b-)表型57名。其中19个家系共51名个体的EKLF/KLF1基因中均发现同样的519-525dupCGGCGCC杂合突变;其余3个家系Lu(a-b-)表型的EKLF/KLF1基因中均发现895C>G杂合突变。结论中国壮族Lu(a-b-)血型的分子背景可能与EKLF/KLF1基因的特异性杂合突变密切相关,且绝大多数为519-525dupCGGCGCC的杂合突变类型。Objective To reveal the molecule and genetic background of EKLF/KLF1 gene in Lu（a-b-） phenotype among Chinese Zhuang population. Methods A total of 22 probands of Lu （b-） phenotype were detected among 4 527 Chinese Zhuang population donors. The Lu （a-b-） individuals of their family members were determined by serologic methods. In addition, 3 exons of EKLF/KLF1 gene were amplified and sequenced. The genetic background was analyzed by sequencing. Results Among the 22 probands, 57 cases with Lu （a-b-） phenotype were determined. A total of 51 individuals from 19 pedigrees showed EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation. The other 3 pedigrees＇ Lu （a-b-） phenotype had EKLF/KLF1 （895C 〉 G） heterozygous mutation. Conclusions The Lu （a-b-） in Chinese Zhuang population might be caused by specific heterozygous mutations in EKLF/KLF1 gene, especially the EKLF/KLF1 519-525dupCGGCGCC heterozygous mutation.

关 键 词：稀有血型 Lutheran血型 EKLF KLF1基因 

分 类 号：Q503[生物学—生物化学]