지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2014.1
- 수록면
- 244 - 248 (5page)
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초록· 키워드
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Background and Purpose There is some controversy regarding heterozygous mutations ofthe gene encoding parkin (PARK2) as risk factors for Parkinson’s disease (PD), and all previousstudies have been performed in non-Asian populations. Dosage mutation of PARK2, rather thana point mutation or small insertion/deletion mutation, was reported to be a risk factor for familial PD; dosage mutation of PARK2 is common in Asian populations.
Methods We performed a gene-dosage analysis of PARK2 using real-time polymerase chainreaction for 189 patients with early-onset PD or familial PD, and 191 control individuals. In thecase of PD patients with heterozygous gene-dosage mutation, we performed a sequencing analysis to exclude compound heterozygous mutations. The association between heterozygous mutation of PARK2 and PD was tested.
Results We identified 22 PD patients with PARK2 mutations (11.6%). Five patients (2.6%)had compound heterozygous mutations, and 13 patients (6.9%) had a heterozygous mutation.
The phase could not be determined in one patient. Three small sequence variations were foundin 30 mutated alleles (10.0%). Gene-dosage mutation accounted for 90% of all of the mutationsfound. The frequency of a heterozygous PARK2 gene-dosage mutation was higher in PD patientsthan in the controls.
Conclusions Heterozygous gene-dosage mutation of PARK2 is a genetic risk factor for patients with early-onset or familial PD in Koreans.
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참고문헌 (26)
참고문헌 신청
Brooks J / 2009 / Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control / J Med Genet 46 : 375 ~ 38
Choi JM / 2008 / Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease / Neurogenetics 9 : 263 ~ 269
Chung EJ / 2006 / Clinical features and gene analysis in Korean patients with early-onset Parkinson disease / Arch Neurol 63 : 1170 ~ 1174
Clark LN / 2006 / Case-control study of the parkin gene in early-onset Parkinson disease / Arch Neurol 63 : 548 ~ 552
Foroud T / 2003 / Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease / Neurology 60 : 796 ~ 801
Choi JM / 2008 / Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease / Neurogenetics 9 : 263 ~ 269
Chung EJ / 2006 / Clinical features and gene analysis in Korean patients with early-onset Parkinson disease / Arch Neurol 63 : 1170 ~ 1174
Clark LN / 2006 / Case-control study of the parkin gene in early-onset Parkinson disease / Arch Neurol 63 : 548 ~ 552
Foroud T / 2003 / Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease / Neurology 60 : 796 ~ 801
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