- [ 2024-06-05 ] [제63회 콜로키움] (구)독일 형법상 '업무상 자살 지원' 금지의 ...
- [ 2024-06-05 ] 2024년 한국간호윤리학회 세미나 개최 안내(6/22(토))
- [ 2024-06-05 ] 2024 대한근거기반의학회 학술대회(7/12(금))
- [ 2024-05-30 ] 2024년 제1차 사전연명의료의향서 등록기관 지정 결과 공고
- [ 2024-05-22 ] 2024년 한국생명윤리학회 춘계공동학술대회 개최 안내(6/28(금))
| 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
Copyright (c)KONIBP All Right Reserved.
2sisstore
