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| 발행년 : | 2006 |
|---|---|
| 구분 : | 학위논문 |
| 학술지명 : | |
| 관련링크 : | http://www.riss.kr/link?id=T10877558 |
- 저자
우명수
- 형태사항
37 p.: 삽도; 26 cm.
- 일반주기
참고문헌 : p. 25-35.
- 학위논문사항
학위논문(석사)-- 한림대학교 대학원 : 분자의학과 분자의학전공 2006
- 발행국
강원도
- 언어
한국어
- 출판년
2006
- 초록 (Abstract)
- Mutations of several genes inherited in Mendelian fashion have been identified to cause Parkinson's disease (PD), which include SNCA (PARK1), PARKIN (PARK2), UCHL1 (PARKS), PINKI (PARK6), DJ-1 (PARK7) and LRRK2 (PARK8). Besides PARK genes, mutations of some genes implicated in spinocerebella ataxia such as ATXN2 (SCA2), ATXN3 (SCA3), SCA8 (SCA8) or TBP (SCA17) were also reported as causes of familial PD especially in Asia. To investigate frequencies of mutations of the above genes in Korean PD population, we have been analyzing mutations of SNCA, PARKIN, PINKI, DJ-1, LRRK2, ATXN2, ATXN3 and TBP in early-onset PD (EOPD) or femilial PD. Genomic DNA from peripheral lymphocytes in sixty-eight PD (fifty-six EOPD and twelve familial PD) were extracted. PCR and direct sequencing of 2 exons of SNCA, 12 exons of PARKIN, 8 exons of PINKI, 6 exons of DJ-1 and one exon of LRRK2 was Performed to detect mutations. Expansion of trinucleotide repeats in ATXN2, ATXN3 and TBP was analyzed by PCR and agarose gel electrophoresis. We found four patients with PINK1 mutations (G32R; R279H; F385L; N367S and K520RfsX522), two patients with PARKIN mutations (deletion of exon 4, Q40X) and a patient with SNCA mutation (A53T). In conclusion, mutations of PINK1 appears to be most common in Korean EOPD population.
- 목차 (Table of Contents)
- 목차 = 0
- Ⅰ. 서론 = 1
- Ⅱ. 실험 및 방법 = 8
- Ⅲ. 결과 = 15
- Ⅳ. 고찰 = 21
- Ⅴ. 결론 = 24
- Ⅵ. 참고문헌 = 25
- Ⅶ. 영문초록 = 36
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