包头市汉族人群CX3CR1基因多态性研究

A Study on CX3CR1 Gene Polymophism of the Han Nationality People in Baotou

目的:探讨CX3CR1基因多态性在包头汉族人群中的分布,以了解不同地域和民族CX3CR1基因型及等位基因频率的差异,明确CX3CR1基因多态性的遗传易感性。方法:自2009年1月1日至2009年10月30日前瞻性登记包头医学院第一附属医院住院的包头市汉族缺血性脑卒中患者163例(病例组)和同期门诊的汉族健康体检者100例(对照组),采用聚合酶链反应-限制性片段长度多态性法检测CX3CR1基因T280M、V249I多态性分布。结果:对照组CX3CR1基因T280M表现为TT(95.0%)、TM(5.0%)型,V249I表现为VV(88.0%)、VI(12.0%)型,缺乏MM、II型;病例组CX3CR1基因T280M表现为TT(82.8%)、TM(16.0%)和MM(1.2%)型,V249I表现为VV(73.0%)、VI(25.2%)和II(1.8%)型,两组基因型别比较差异均有统计学意义(P<0.05),T、V等位基因在CX3CR1的基因多态性中起着主要作用。结论:包头市汉族缺血性脑卒中人群CX3CR1基因型以TT、VV型为主,健康人群缺乏MM、II型,T280M、V249I中T、V等位基因位点的突变可能增加缺血性脑卒中的易感性。

Objective： To investigate and compare CX3CR1 gene polymorphism distribution among Han nationality people in Baotou in order to get a better understanding of the difference in CX3CR1 genotypes and allele frequency at different regions and among different nationalities and to confirm the genetic susceptibility of CX3CR1 gene polymorphism in ischemic stroke. Methods： 163 cases of ischemic stroke （case group） and 100 healthy people （the control group） were registered and drawn blood prospectively from January 1,2009 to October 30, 2009 in the first affiliated hospital of Baotou medical college. Multiplex poly- merase chain reaction was used to detect and analyse T＇280M and V249I gene frequency in healthy people and ischemic stroke pa- tients of Han nationality in Baotou. Results： There were two kinds of gene types TT （95.0 % ） and TM （5.0 % ） in T280M of CX3CRI in health people of Han nationality in Baotou, VV （88.0 % ） and VI （ 12.0 % ） in V2491, without MM and II types. There were three kinds of gene types, Tr （82.8 % ）, TM （ 16.0 % ） and MM （ 1.2 % ） in T280M of CX3CR1 in ischemic stroke patients in Baotou, VV（73.0 % ）, VI（25.2 % ） and II（ 1.8 % ） in V249L T and V allele genes act as important roles in CX3CR1 polymorphisms. There was statistic difference between ischemic stroke patients and health people in genetype fre- quency of T280M and V249I in Baotou. Conclusion： TT and VV are the main gene types in T280M and V249I of CX3CR1 in the patients of ischemic stroke of Han nationality in Baotou, without MM and II in healthy people. T280M and V249I gene mutations in T or V points could increase the susceptibility of ischemic stroke.