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  

Linkage analysis in 2 pure familial paroxysmal kinesigenic dyskinesia families

作　　者：周瑾瑕[1] 李国良[1] 陈婵娟[1] 刘鼎[1] 肖波[1] 沈露[1] 江泓[1] 吴志国[1] 

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中华神经科杂志》2008年第3期159-163,共5页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目（30571020）

摘　　要：目的对2个中国汉族单纯型发作性运动诱发性运动障碍（PKD）大家系进行排除定位，为PKD发病机制的探讨及疾病基因的克隆奠定基础。方法抽取2个家系27名成员外周血，选取16号染色体上覆盖目前已知PKD位点的微卫星标记，进行参数及非参数连锁分析，并进行单体型分析。结果通过对2个显性遗传的PKD大家系的参数及非参数连锁分析发现，家系A的最大LOD值以及NPL值均为负值，P〉0．05，排除与已知的PKD位点连锁；家系B的最大LOD值〈1，最大NPL值0．77，P〉0．05，不支持致病基因与已知PKD位点连锁。进一步对2个家系进行单体型分析，排除其致病基因位点与已知位点连锁，提示存在新的PKD疾病基因位点。结论PKD具有遗传异质性，单纯型PKD家系存在新的疾病基因位点。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 nonparametric 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.

关 键 词：运动失调 系谱 染色体图 

分 类 号：R686[医药卫生—骨科学]