Chinese Journal of Medical Genetics 2009;26(1):1-5

doi:10.3760/cma.j.issn.1003-9406.2009.01.001

Fine mapping of a pure paroxysmal kinesigenic dyskinesia family.

Ding LIU 1 ; Guo-liang LI ; Chan-juan CHEN ; Jin-xia ZHOU ; Bei ZHANG ; Zhi-guo WU ; Bo XIAO

Affiliations

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Country

China

Language

Chinese

Abstract

OBJECTIVETo fine map the gene responsible for pure paroxysmal kinesigenic dyskinesia in a Chinese family.

METHODSSix 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 theta=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.