Du Te, Feng Bin, Wang Xin, Mao Wei, Zhu Xilin, Li Liping, Sun Bei, Niu Nifang, Liu Yang, Wang Yuping, Chen Biao, Cai Xingqiu, Liu Ying
National Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, 5 Dongdan 3 Tiao, Beijing 100005, China.
J Mol Neurosci. 2008 Feb;34(2):101-7. doi: 10.1007/s12031-007-9012-z. Epub 2007 Oct 19.
Paroxysmal kinesigenic choreoathetosis (PKC) is an autosomal-dominant movement disorder characterized by attacks of paroxysmal involuntary movements. To date, the causative gene has not been discovered.
The purpose of the study is to localize the causative region and detect the causative mutation.
A PKC family including 16 subjects (5 cases and 11 controls) in Zhejiang Province was recruited. Nine microsatellite markers on chromosome 16 were selected and genotyped. Two-point LOD scores were calculated. After preliminary localization, CACNG3, IL4R and ABCC11 were selected as candidate genes and were detected by polymerase chain reaction-sequencing or PCR-denaturing high performance liquid chromatography (PCR-DHPLC).
The maximal two-point LOD score was obtained in D16S3081 with 1.21, and haplotype analysis revealed almost all of individuals carrying 5-3-8-3-4-2-5-5-6 in D16S3093/D16S685/D16S690/D16S3081/D16S3080 D16S411/D16S3136/D16S3112/D16S3057 were affected by PKC. There were no causative mutation in CACNG3, IL4R and ABCC11 genes.
The culprit gene for PKC was located in approximately 19.34 cM region between 16p12.1-q13, and CACNG3, IL4R and ABCC11 were all ruled out as the cause.
发作性运动诱发性舞蹈手足徐动症（PKC）是一种常染色体显性运动障碍，其特征为发作性的不自主运动。迄今为止，尚未发现致病基因。
本研究旨在定位致病区域并检测致病突变。
招募了一个来自浙江省的包含16名受试者（5例患者和11名对照）的PKC家系。选择了位于16号染色体上的9个微卫星标记进行基因分型。计算两点连锁分析的LOD值。初步定位后，选择CACNG3、IL4R和ABCC11作为候选基因，通过聚合酶链反应测序或PCR-变性高效液相色谱法（PCR-DHPLC）进行检测。
在D16S3081处获得最大两点LOD值为1.21，单倍型分析显示几乎所有在D16S3093/D16S685/D16S690/D16S3081/D16S3080/D16S411/D16S3136/D16S3112/D16S3057中携带5-3-8-3-4-2-5-5-6的个体均患有PKC。在CACNG3、IL4R和ABCC11基因中未发现致病突变。
PKC的致病基因位于16p12.1-q13之间约19.34 cM的区域，且已排除CACNG3、IL4R和ABCC11作为致病原因。
