3个单纯型发作性运动诱发性运动障碍家系的致病基因定位  

Mapping of the gene responsible for pure paroxysmal kinesigenic dyskinesia in three Chinese Han families

作　　者：陈素琴[1] 王一鸣[1] 李洵桦[2] 梁秀龄[2] 周珏倩[2] 方莹莹[2] 

机构地区：[1]中山大学中山医学院遗传学教研室 [2]中山大学附属第一医院神经内科

出　　处：《中国神经精神疾病杂志》2011年第10期577-583,共7页Chinese Journal of Nervous and Mental Diseases

基　　金：国家自然科学基金项目(编号:30671154)

摘　　要：目的在3个中国汉族单纯型发作性运动诱发性运动障碍(paroxysmal kinesigenic dyskinesia,PKD)家系中确定其疾病基因所在区域。方法在已知的PKD连锁区域16p12.2-q22.3选取14个微卫星遗传标记对37位家庭成员进行基因分型,用Linkage和Genehunter等软件进行连锁分析并构建疾病单倍型。结果连锁分析及单倍型分析将致病基因定位于D16S3133～D16S3044(16p12.1-q12.1)之间11.2 cM的区域。结论 3个汉族单纯型PKD家系的致病基因被定位于D16S3133～D16S3044(16p12.1-q12.1)之间,与最初的婴儿惊厥及阵发性舞蹈手足徐动症(infantile convulsions and paroxysmal choreoathetosis,ICCA)的位点重叠。Objective To map the gene responsible for pure paroxysmal kinesigenic dyskinesia in three Chinese Han families. Methods Fourteen microsatellite markers flanking 16p12.2-q22.3 were selected for genotyping in 37 family members. Parameter and non-parameter analysis were performed using Linkage and Genehunter softwares and haplotypes were constructed. Results A maximum two-lod score 2.97 at D16S3080 （0 = 0） and 2.53 at D16S3068 （0 = O） were obtained when penetrance set to 0.7. A maximum multi-lod score 2.75 and maximum NPL score 3.85 （P = 0.002） were obtained at D16S3068-D16S3131. Haplotype analysis localized PKD to the region D16S3133 ~ D16S3044 （16p12.1-q12.1）. Conclusions The gene responsible for PKD in three Chinese Han families was mapped to 16p12.1-q12.1, which was the same as the original ICCA （infantile convulsions and paroxysmal choreoathetosis ） region.

关 键 词：发作性运动诱发性运动障碍 基因定位 连锁分析 

分 类 号：R741[医药卫生—神经病学与精神病学]