一个中国北方汉族不宁腿综合征家系的基因学筛查研究  

Genetic screening in a three-generation northern Chinese family with restless legs syndrome

作　　者：薛云[1,2] 申珅 刘雅萍 崔艺浓 杜艺彤 肖玉莲 脱厚珍[1] XUE Yun;SHEN Shen;LIU Yaping;CUI Yinong;DU Yitong;XIAO Yulian;TUO Houzhen(Department of Neurology,Affiliated Beijing Friendship Hospital of Capital Medical University,Beijng,100050,China)

机构地区：[1]首都医科大学附属北京友谊医院神经内科,100050 [2]临沂市中医医院神经内科 [3]中国医学科学院基础医学研究所医学遗传系,100730

出　　处：《中国神经免疫学和神经病学杂志》2018年第6期412-416,共5页Chinese Journal of Neuroimmunology and Neurology

基　　金：北京市教委项目编号:KM201610025016.

摘　　要：目的对1个不安腿综合征(RLS)家系进行RLS发病相关的基因及单核苷酸多态性检测以研究该家系的遗传学特征。方法根据发病程度及发病人数进行筛选后,对一个3代共9例患病者的家系中的12人通过MassARRAY分子量阵列技术检测可能与RLS相关的20个SNPs位点,获得该家系成员不同基因相关位点基因分型,并进行单体型分析。结果MassARRAY分子量阵技术测序结果示:该家系RLS患者未携带rs9394492-C等位基因及rs1052553-G等位基因;该家系携带rs12469063-G、rs2300478-G等其他等位基因与该家系RLS患者无共分离。单体型分析提示该家庭4例RLS患者可能均携带相同的MEIS1基因及MAP2K5基因单体型。结论 MEIS1基因及MAP2K5基因可能与该RLS家系发病有关。Objective To investigate the genetic characteristics of a single pedigree with restless legs syndrome(RLS).Methods According to the severity of disease and the number of cases,12 samples of the pedigree including 9 patients with RLS were tested for 20 SNPs related to RLS by MassARRAY molecular weight array technology.Haplotype analysis was performed.Results This pedigree did not carry the allele C of rs9394492 or the allele G of rs1052553.The rest SNPs did not co-segregate with RLS in the pedigree,which suggested that these variants are not causative mutations.In the haplotypes analysis,two haplotypes,one in MEI1 and the other in MAP2K5 might segregate with RLS in the family.Conclusions MEI1 and MAP2K5 may confer risk of RLS in the pedigree.

关 键 词：不宁腿综合征 单核苷酸多态性 基因筛查 

分 类 号：R741[医药卫生—神经病学与精神病学]