上海地区汉族人群Lutheran缺失表型的筛选及其分子背景研究  

Screening of rare blood group Lu（a --b --） phenotype and study of its molecular basis in ethnic Han Chinese from Shanghai region

作　　者：王晨[1] 李勤[1] 郭忠慧[1] 叶璐夷[1] 朱自严[1] 

机构地区：[1]上海市血液中心,200051

出　　处：《中华医学遗传学杂志》2014年第2期238-241,共4页Chinese Journal of Medical Genetics

基　　金：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（2010027）

摘　　要：目的在上海地区汉族人群中筛选Lu（a—b-）表型并统计该表型的频率。通过检测其LU基因及其相关EKLF／KLF1调控基因，揭示其分子机理。方法应用血清学方法对上海地区无偿献血者的Lub抗原进行筛选。对Lu（b-）个体鉴定其Lua、P1、i抗原。针对筛选出的Lu（a—b-）标本，对其LU基因的15个外显子以及相关的EKLF／KLF1基因3个外显子进行扩增并测序。结果在上海地区44331名无偿献血者标本中筛选出10份Lu（a—b-）标本。其LU基因均未发现纯合或杂合型突变，但在相关的EKLF／KLF1基因中发现7种不同的突变。结论Lu（a—b-）血型在上海地区汉族人群的频率约为0．02％，均为In（Lu）个体，其分子机制可能与EKLF／KLF1基因的杂合突变有关。Objective To study the frequency of rare blood group Lu （a- b--） phenotype in a population from Shanghai region, and to explore the molecular basis of Lu（a--b--） by detecting the Lu and Lu relative mediator gene EKLF/KLF1. Methods Donors from Shanghai region were screened for Lutheran blood group by monoclonal anti-Lub using serological methods. Individuals with Lu（b--） were determined Lua, P1 and i antigens. Fifteen exons of the LU gene and 3 exons of the EKLF/KLF1 gene for the identified Lu（a--b--） samples were amplified and sequenced. Results Ten Lu（a--b--） donors were obtained from 44 331 donors from Shanghai region. No homozygous or heterozygous mutations were found in the LU gene, whilst 7 mutations in EKLF/KLF1 gene were identified in the 10 samples. Conclusion The frequency of rare Lu（a--b--） blood group in Shanghai was approximately 0.02 %, and all the individuals had an In（Lu） phenotype. The molecular basis of such samples may be related to mutations in the EKLF/KLF1 gene.

关 键 词：稀有血型 Lutheran血型 LU基因 EKLF KLF1基因 

分 类 号：R394[医药卫生—医学遗传学]