【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。更多还原

【Abstract】 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(θ = 0) and 2.53 at D16S3068(θ = 0) 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.更多还原