지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2008.1
- 수록면
- 271 - 275 (5page)
이용수
초록· 키워드
오류제보하기
Recently it was shown that single nucleotide polymorphisms
(SNPs) can explain individual variation because
of the small changes of the gene expression level
and that the 50% decreased expression of an allele
might even lead to predisposition to cancer. In this
study, we found that a decreased expression of an allele
might cause predisposition to genetic disease.
Dopa responsive dystonia (DRD) is a dominant disease
caused by mutations in GCH1 gene. The sequence
analysis of the GCH1 in a patient with typical DRD
symptoms revealed two novel missense mutations instead
of a single dominant mutation. Family members
with either of the mutations did not have any symptoms
of DRD. The expression level of a R198W mutant allele
decreased to about 50%, suggesting that modestly decreased
expression caused by an SNP should lead to
predisposition of a genetic disease in susceptible
individuals.
목차
등록된 정보가 없습니다.
참고문헌 (14)
참고문헌 신청
Antonarakis SE / 2001 / The Metabolic and Molecular bases of inherited disease / MaGraq-Hill, Toronto : 356 ~ 358
Blau N / 1995 / A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program / J Pediatr 126 : 401 ~ 5
Furukawa Y / 1998 / Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM. Dystonia with motor delay in compound heterozygotes for GTPcyclohydrolase I gene mutations / Ann
Hirano M / 1999 / Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia / Neurology 52 : 182 ~ 4
Hong KM / 2000 / Mutation analysis of Korean patients with citrullinemia / Mol Cells 10 : 465 ~ 8
Blau N / 1995 / A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program / J Pediatr 126 : 401 ~ 5
Furukawa Y / 1998 / Fryburg JS, Wilson WG, Shimadzu M, Hyland K, Trugman JM. Dystonia with motor delay in compound heterozygotes for GTPcyclohydrolase I gene mutations / Ann
Hirano M / 1999 / Mutant GTP cyclohydrolase I in autosomal dominant dystonia and recessive hyperphenylalaninemia / Neurology 52 : 182 ~ 4
Hong KM / 2000 / Mutation analysis of Korean patients with citrullinemia / Mol Cells 10 : 465 ~ 8
함께 읽어보면 좋을 논문
논문 유사도에 따라 DBpia 가 추천하는 논문입니다. 함께 보면 좋을 연관 논문을 확인해보세요!
-
Associations between DRDs and schizophrenia in a Korean population: multi-stage association analyses
Experimental and Molecular Medicine
2011 .01
-
Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis
Genomics & informatics
2013 .01
-
Structural Bioinformatics Analysis of Disease-related Mutations
Genomics & informatics
2008 .01
-
Characterization of Single Nucleotide Polymorphisms in 55 Disease-Associated Genes in a Korean Population
Genomics & informatics
2007 .01
-
국내 흡연자에서 유전자 다형성과 금연결과와의 관계
Korean Journal of Health Promotion
2011 .01
-
Genetic Predisposition Testing Service and Microorganism Interaction
한국미생물학회 학술대회논문집
2017 .04
-
A Mutation Screening for Fabry Disease : Detection of Mutation in the $\alpha$-galactosidase A Gene
한국동물학회 학술대회
1997 .01
-
On the probability of genotypes in population genetics
한국수학논문집
2020 .01
-
Effects of a chemical chaperone on genetic mutations in α-galactosidase A in Korean patients with Fabry disease
Experimental and Molecular Medicine
2009 .01
-
MAP: Mutation Arranger for Defining Phenotype-Related Single-Nucleotide Variant
Genomics & informatics
2014 .01
-
Detection of p53 Gene Mutations from Cervical Cancer Patients in Korea
한국동물학회 학술대회
1999 .01
-
A MELAS syndrome family harboring two mutations inmitochondrial genome
Experimental and Molecular Medicine
2008 .01
-
Genotype Distribution of the Mutations in the Coagulation Factor V Gene in the Korean Population: Absence of Its Association with Coronary Artery Disease
Korean journal of biological sciences
2003 .01
-
Detection of Lamivudine-Resistant Mutations of HBV DNA Polymerase Gene Using PCR-Direct Sequencing
대한임상검사과학회지
2006 .01
-
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene
Experimental and Molecular Medicine
2015 .01
-
Mutation & SNP spectrum of the human ATP7B gene of Korean patient with Wilson Disease and their functional characterization
한국유전체학회 Conference
2006 .01
-
Detection of Human Cytomegalovirus UL97 D605E Mutation in Korean Stem Cell Transplantation Recipients and Donors
Journal of Microbiology and Biotechnology
2013 .01
-
Detection of Single Nucleotide Polymorphism in Human IL-4 Receptor by PCR Amplification of Specific Alleles
Korean journal of biological sciences
2001 .01
-
Genetic Polymorphism of Vascular Endothelial Growth Factor (VEGF C936T) in the Korean Population
Korean journal of biological sciences
2003 .01
-
Validation of G-protein beta-3 subunit gene C825T polymorphism as predictor of obesogenic epidemics in overweight/obese Korean children
Journal of Nutrition and Health
2016 .08
이 논문의 저자 정보
최근 본 자료
댓글(0)
0