Journal article
Localization and mutation detection for paroxysmal kinesigenic choreoathetosis
Journal of molecular neuroscience, Vol.34(2), pp.101-107
02/01/2008
DOI: 10.1007/s12031-007-9012-z
PMID: 17952630
Abstract
Backgrounds 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.
Purpose The purpose of the study is to localize the causative region and detect the causative mutation.
Methods 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).
Results 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.
Conclusions The culprit gene for PKC was located in similar to 19.34 cM region between 16p12.1-q13, and CACNG3, IL4R and ABCC11 were all ruled out as the cause.
Details
- Title: Subtitle
- Localization and mutation detection for paroxysmal kinesigenic choreoathetosis
- Creators
- Te Du - Chinese Acad Med Sci, Peking Union Med Coll, Sch Basic Med,Inst Basic Med Sci, Natl Lab Med Mol Biol, Beijing 100005, Peoples R ChinaBin Feng - Tongde Hospital of Zhejiang ProvinceXin Wang - Chinese Academy of Medical Sciences & Peking Union Medical CollegeWei Mao - Capital UniversityXilin Zhu - Chinese Academy of Medical Sciences & Peking Union Medical CollegeLiping Li - Capital UniversityBei Sun - Chinese Academy of Medical Sciences & Peking Union Medical CollegeNifang Niu - MRC Laboratory of Molecular BiologyYang Liu - Chinese Academy of Medical Sciences & Peking Union Medical CollegeYuping Wang - Capital UniversityBiao Chen - Capital UniversityXingqiu Cai - Nanjing Brain HospitalYing Liu - Chinese Academy of Medical Sciences & Peking Union Medical College
- Resource Type
- Journal article
- Publication Details
- Journal of molecular neuroscience, Vol.34(2), pp.101-107
- Publisher
- Humana Press Inc
- DOI
- 10.1007/s12031-007-9012-z
- PMID
- 17952630
- ISSN
- 0895-8696
- eISSN
- 1559-1166
- Number of pages
- 7
- Language
- English
- Date published
- 02/01/2008
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984701547002771
Metrics
4 Record Views