眉山地区汉族人群LW基因的全基因测序及多态性分析  

The whole-gene sequencing and polymorphism analysis of Landsteiner-Wiener gene in Han population in Meishan

作　　者：张小庄[1] 田力 宋宁[2] 张嵘[2] 王珏[2] 刘忠[1,2] 

机构地区：[1]安徽医科大学公共卫生学院,安徽合肥230032 [2]中国医学科学院输血研究所

出　　处：《中国输血杂志》2015年第7期775-777,共3页Chinese Journal of Blood Transfusion

基　　金：四川省科技厅科技计划项目(2015JY0121)

摘　　要：目的通过对整个ICAM4基因测序,调查其在眉山地区汉族人群中的基因多态性及其基因突变情况。方法提取眉山地区200名无血缘关系的无偿献血者DNA,通过PCR扩增和测序完整ICAM4基因(包括3个外显子,2个内含子),与标准序列比对,确定基因型,并探索是否存在突变。结果 200名献血者测序结果表明,LW血型基因型都是LWa/LWa,并未发现LWb等位基因,全ICAM4基因序列未发现突变。结论此次研究所有的无偿献血者的LW等位基因都是LWa,未发现LWb等位基因。该结果得到初步结论为LW血型系统在眉山地区汉族人群中以LWa为主,LWb为罕见等位基因,其血型系统在眉山地区在输血中可能不具有太大的临床意义。Objective To investigate the polymorphisms and mutations of LW blood group gene in Han population in Meishan by sequencing the whole ICAM4 gene. Methods 200 DNA from unrelated voluntary donors in Meishan region were extracted,then were performed by PCR testing and sequence analysis of the whole ICAM4 gene,including three exons and two introns. The sequencing was compared with standard sequence,followed by detection of gene type and investigation on whether or not mutation persists. Results The sequencing results showed that all the LWa/ LWballele were LWa. There was no new variation and new allele found in the study. Conclusion The frequency of LWaallele was extremely high in Han population in Meishan. In this study,all the LWa/ LWballele is LWa,rather than LWb. This study demonstrated that the frequency of LWaallele was extremely high and LWballele was a rare gene in Han population in Meishan. The LW blood group system does not have clinical significance in transfusion in Meishan region.

关 键 词：细胞间黏附分子4 基因多态性 汉族人群 等位基因 

分 类 号：R457.11[医药卫生—治疗学]