Fine mapping of a pure paroxysmal kinesigenic dyskinesia family / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>Evidence for linkage of the pure paroxysmal kinesigenic dyskinesia to chromosome 3 was further confirmed. A maximum two-lod score of 2.82 at theta=0 was obtained with D3S3669. Critical recombinants place the PKD gene between D3S1314 and D3S1265.</p><p><b>CONCLUSION</b>A new locus of pure paroxysmal kinesigenic dyskinesia (PKD) is localized within a 10.2 cM interval on 3q28-29, between markers D3S1314 and D3S1265.</p>