643 648

Cited 0 times in

젊은 나이에 산발성 파킨슨병이 생긴 한국인 환자의 Parkin 유전자 변이

Other Titles
 Parkin Gene Mutation in Korean Patients with Young Age Onset Sporadic Parkinson's Disease 
Authors
 이기욱  ;  류철형  ;  이명식 
Citation
 Journal of the Korean Neurological Association, Vol.24(1) : 26-30, 2006 
Journal Title
Journal of the Korean Neurological Association
ISSN
 1225-7044 
Issue Date
2006
Keywords
Parkinson disease ; Parkin protein ; Mutation
Abstract
Background: Abnormalities of the parkin gene is the most frequently found genetic abnormality in patients with sporadic young age onset of Parkinson's disease (PD). We investigated the frequency of abnormalities of the parkin gene in Korean patients with young age onset PD (YOPD).
Methods: This study included 18 patients (M:F=10:8) who developed PD before the age of 45. DNA was isolated from peripheral blood leukocytes. Exonal deletion and nucleotide sequence changes in the parkin gene was searched by quantitative PCR and sequencing of all coding regions.
Results: Only one patient had a heterozygous mutation at the nucleotide position 1473 in exon 12 (A1473C). The remaining 17 patients showed no mutations in the coding region of the parkin gene. In all 18 patients, we could not find any compound heterozygotic as well as homozygotic exonal deletion. The patient who had the heterozygotic point mutation in the parkin gene did not present any clinical features differentiating the patient from the others with YOPD. The frequency of parkin mutation in patients with YOPD in our series was 5.6 percent.
Conclusions: In Korean patients with YOPD, the frequency of parkin mutation seems to be lower than that of other ethnic groups. Further studies with a larger number of patients with YOPD are needed to support this suggestion.
Files in This Item:
T200600820.pdf Download
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Myung Sik(이명식) ORCID logo https://orcid.org/0000-0002-8413-1854
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/109755
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links