辽宁地区汉族人群FOXP2基因单核苷酸多态性研究  

Allele frequency distribution of five single neucleotide polymorphisms of FOXP2 gene in Liaoning Han population

作　　者：赵云静[1] 孙洪伟[2] 李书娟 麻宏伟[1] 

机构地区：[1]中国医科大学附属盛京医院发育儿科,辽宁沈阳110004 [2]沈阳医学院奉天医院儿科,辽宁沈阳110024 [3]辽阳石油化纤公司职工医院儿科,辽宁辽阳111003

出　　处：《中国现代医学杂志》2011年第31期3884-3889,共6页China Journal of Modern Medicine

基　　金：辽宁省教育厅科研项目(No:20100614)

摘　　要：目的研究辽宁汉族人群FOXP2基因多态性分布特征及其连锁不平衡关系。方法采用PCR-限制性片段长度多态方法(PCR-RFLP)结合直接测序法对140名辽宁汉族健康人群的FOXP2基因5个单核苷酸多态性(SNPs)rs923875、rs2396722、rs1852469、rs17137124及rs1456031进行分析。结果 FOXP2基因rs923875的等位基因A、C的频率分别为0.368和0.632;rs2396722的等位基因C、T的频率分别为0.551,0.449;rs1852469的等位基因A、T的频率分别为0.464,0.536;rs17137124的等位基因C、T的频率分别为0.621和0.379;rs1456031的等位基因C、T的等位基因频率为0.547和0.453。5个SNPs的基因型频率分布符合Hardy-Weinberg平衡定律。与其他种族人群相比,5个SNPs的等位基因频率在不同种族间存在显著差异。rs2396722与rs923875之间D’值为0.336,rs2396722与rs17137124之间D’值为0.379。结论 FOXP2基因的5个SNPs在辽宁地区汉族人群中均有多态性,多态性分布具有种族差异。rs2396722与rs923875,rs2396722与rs17137124在辽宁汉族人群中存在中等程度的连锁不平衡。【Objective】 To investigate the distribution character and linkage disequilibrium of FOXP2 polymorphisms in Han population of Liaoning Province.【Methods】 Five SNPs of FOXP2 gene,rs923875,rs2396722,rs1852469,rs17137124 and rs1456031,were analyzed using PCR-RFLP and DNA sequencing in 140 healthy Liaoning Hans.【Results】 The allele frequencies of rs923875 are 0.368 for allele A and 0.632 for C,rs2396722 are 0.551 for C and 0.449 for T,rs1852469 are 0.464 for allele A and 0.536 for T,rs17137124 are 0.621 for C and 0.379 for T,and rs1456031 are 0.547 for C,and 0.453 for T,respectively.The distributions of allele frequencies of the five SNPs were consistent with Hardy-Weinberg Equilibrium.The significant differences of genotype and allele frequency distributions were detected between different populations.The D＇value is 0.336 between rs923875 and rs2396722,0.379 between rs2396722 and rs17137124.【Conclusion】 The polymorphisms of the five SNPs rs1456031,rs2396722,rs1852469,rs17137124 and rs1456031 can be detected in Liaoning Han population.The distributions of the five SNPs exhibit ethnic heterogeneity.Moderate linkage dusequilibrium between markers rs923875 and rs2396722,and between rs2396722 and rs17137124 can be found.

关 键 词：FOXP2基因 限制性片段长度多态性 单核苷酸多态性 连锁不平衡 基因型 

分 类 号：R394.5[医药卫生—医学遗传学]