Linkage analysis in 2 pure familial paroxysmal kinesigenic dyskinesia families
- VernacularTitle:单纯型家族性发作性运动诱发性运动障碍二家系基因连锁分析
- Author:
Jinxia ZHOU
;
Guoliang LI
;
Chanjuan CHEN
;
Ding LIU
;
Bo XIAO
;
Lu SHEN
;
Hong JIANG
;
Zhiguo WU
- Publication Type:Journal Article
- Keywords:
Dyskinesias;
Pedigree;
Chromosome mapping
- From:
Chinese Journal of Neurology
2008;41(3):159-163
- CountryChina
- Language:Chinese
-
Abstract:
Objective Linkage analysis were performed in 2 pure Chinese paroxysmal kinesigenic dyskinesia families to localize the locus of them. Method Microsatellites markers corresponding to pericentrometric region of chromosome 16 were used in parametric and nonparametrie linkage analysis for 27 members in the 2 pedigrees, haplotypes were constructed subsequently. Result The maximum LOD score and NPL score in the 2 families were all negative, P values were significantly larger than 0.05.No haplotype segregated with PKD phenotype was found. It showed no evidence of association with known PKD loci in both pedigrees, providing evidence for a novel PKD locus. Conclusion PKD is heterogeneous, a novel PKD locus may be in pure Chinese pedigrees.
