Novel mutation of FAH gene identified from a patient with acute hereditary tyrosinemia type Ⅰ = 제1형 급성 타이로신 혈증에 관여하는 FAH 유전자 변이 연구

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FAH (fumarylacetoacetate hydrolase) is the last enzyme of tyrosine degradation pathway which catalyzes the hydrolysis of fumarylacetoacetate to fumarate and acetoacetate. Tyrosinemia Type1 (HT1) is the disease caused by the defect of this enzyme and is transmitted by autosomal recessive manner. Kim O O was the patient who showed typical acute type HT1 symptoms and died at the age of eight months after birth. Through the methods of molecular biological techniques, this acute HT1 patient was investigated. Fourteen exons of the patient``s and his parents`` FAH gene were enzymatically amplified and sequenced. Two missense mutations were found. One was Pro to Leu in exon 9 which came from the maternal side, and the other was Phe to Ser in exon 8 which came from paternal side. These two missense mutations seemed to be responsible for the deficiency of functional FAH proteins.
Advisors
Yoo, Ook-Joonresearcher유욱준researcher
Description
한국과학기술원 : 생물과학과,
Publisher
한국과학기술원
Issue Date
1997
Identifier
112661/325007 / 000953367
Language
eng
Description

학위논문(석사) - 한국과학기술원 : 생물과학과, 1997.2, [ [iv], 58 p. ]

Keywords

FAH gene; Fumarylacetoacetate hydrolase; HT1; Tyrosinemia; Mutation; 돌연변이; FAH유전자; 푸마릴아세토아세테이트 가수분해효소; 제1형; 타이로신혈증

URI
http://hdl.handle.net/10203/28524
Link
http://library.kaist.ac.kr/search/detail/view.do?bibCtrlNo=112661&flag=dissertation
Appears in Collection
BS-Theses_Master(석사논문)
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