中国汉族单纯型发作性运动诱发性运动障碍家系的致病基因定位研究

目的 在1个中国汉族单纯型发作性运动诱发性运动障碍(paroxyamal kinesigenic dykinesia,PKD)大家系中定位其致病基因所在区域.方法 用商业化的ABI微卫星试剂盒进行全基因组扫描,用Linkage和Genehunter等软件对基因分型的结果 进行参数和非参数连锁分析,并在最可能的阳性区域内进一步选择微卫星位点进行精细定位和单倍型分析.验证全基因组扫描结果 并缩小单纯型PKD家系的新位点区域.结果 全基因组扫描在D3S1580处得到最大的两点LOD值1.75(θ=0);精细定位在D3S3669处得到最大的LOD值2.82(θ=0),NPL值9.83.单倍型分析将致病基因定位于D3S1314和D3S1265之间约10.2 cM大小的区域.结论 该单纯型PKD家系的致病基因定位于3q28-29的D3S1314和D3S1265之间10.2 cM区域,是一个新的PKD致病基因位点.

Fine mapping of a pure paroxysmal kinesigenic dyskinesia family

Objective To fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.Methods Six additional markers flanking the tightly linked markers were chosen in the candidate region resulting from a whole genome-wide scanning and tested by parameter and nonparameter analysis using Linkage and Genehunter softwares to fine map the candidate region.ResultsEvidence for linkage of the pure paroxysmal kinesigenic dyskinesia to chromosome 3 was further confirmed.A maximum two-lod score of 2.82 at θ=0 was obtained with D3S3669.Critical recombinants place the PKD gene between D3S1314 and D3S1265.ConclusionA new locus of pure paroxysmal kinesigenic dyskinesia (PKD)is localized within a 10.2 cM interval on 3q28-29,between markers D3S1314 and D3S1265.