中文摘要：

目的在3个中国汉族单纯型发作性运动诱发性运动障碍（paroxysmalkinesigenicdyskinesia，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11．2cM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。

英文摘要：

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.