[Fine mapping of a pure paroxysmal kinesigenic dyskinesia family].
作者信息
Liu Ding, Li Guo-liang, Chen Chan-juan, Zhou Jin-xia, Zhang Bei, Wu Zhi-guo, Xiao Bo
机构信息
Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 PR China.
出版信息
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Feb;26(1):1-5. doi: 10.3760/cma.j.issn.1003-9406.2009.01.001.
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.
RESULTS
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.
CONCLUSION
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.
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