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Frequent sequence variation at the ETM2 locus and its association with sporadic essential tremor in Korea

Authors
 Jeong-Hyun Kim  ;  Yoon-Hee Cho  ;  Jeong-Kook Kim  ;  Yong-Gou Park  ;  Jin Woo Chang 
Citation
 MOVEMENT DISORDERS, Vol.20(12) : 1650-1653, 2005 
Journal Title
MOVEMENT DISORDERS
ISSN
 0885-3185 
Issue Date
2005
MeSH
Aged ; Aged, 80 and over ; Case-Control Studies ; Chromosome Mapping ; Chromosomes, Human, Pair 2* ; Essential Tremor/genetics* ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genetic Variation* ; Humans ; Korea/ethnology ; Linkage Disequilibrium* ; Male ; Middle Aged ; Tandem Repeat Sequences
Keywords
essential tremor (ET) ; ETM2 ; short tandem repeats (STRs) ; polymorphism
Abstract
Essential tremor (ET) is the most common but a complex neurological movement disorder. ET usually affects hands, but it may also affect head, neck, face, jaw, tongue, voice, trunk and, rarely, legs and feet. Although two susceptibility loci were identified on chromosome 2p24 (ETM2) and 3q13 (ETM1 or FET1), the exact transcript(s) has not been cloned. We analyzed unrelated Korean individuals with ET for a genetic association with three reported polymorphic loci (STS-etm1240, STS-etm1231, and STS-etm1234) in a candidate region on chromosome 2p24.1. We investigated sequence polymorphisms at these three loci in 30 ET patients and 30 controls using polymerase chain reaction (PCR) amplification followed by sequence analysis. Eight different sequence variants (5 at etm1234, 2 at etm1240, and 1 at etm1231) were detected from 7 patients. Of interest, sequence variants were found only in classic ET patients but not in nonclassic ET patients and healthy individuals. Additionally, we also observed that a decrease in the number of short tandem repeats within etm1234 locus is more frequent in ET patients compared to controls. Our data thus support that ET development would be linked with the ETM2 locus and will facilitate the search for the ETM2 gene transcript.
Full Text
http://onlinelibrary.wiley.com/doi/10.1002/mds.20646/abstract
DOI
10.1002/mds.20646
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurosurgery (신경외과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Yonsei Biomedical Research Center (연세의생명연구원) > 1. Journal Papers
Yonsei Authors
Park, Yong Gou(박용구)
Chang, Jin Woo(장진우) ORCID logo https://orcid.org/0000-0002-2717-0101
Cho, Yoon Hee(조윤희)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/150569
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