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Please use this identifier to cite or link to this item: http://repository.li.mahidol.ac.th/dspace/handle/123456789/13820
Title: Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
Authors: Yen Hui Chiu
Ying Chen Chang
Yu Hsin Chang
Dau Ming Niu
Yan Ling Yang
Jun Ye
Jianhui Jiang
Yoshiyuki Okano
Dong Hwan Lee
Suthipong Pangkanon
Chulaluck Kuptanon
Ngu Lock Hock
Mary Anne Chiong
Barbra V. Cavan
Kwang Jen Hsiao
Tze Tze Liu
National Yang-Ming University Taiwan
Taipei City Hospital Taiwan
Veterans General Hospital-Taipei
Peking University
Shanghai Jiao Tong University
Guangzhou Maternal and Neonatal Hospital
Osaka City University
Soonchunhyang University, College of Medicine
Rangsit University
Mahidol University
Kuala Lumpur Hospital
University of the Philippines Manila
Children's Clinic and Human Genetics Information Resource Center
Preventive Medicine Foundation
Chang Gung Medical Foundation
Keywords: Biochemistry, Genetics and Molecular Biology;Medicine
Issue Date: 1-Feb-2012
Citation: Journal of Human Genetics. Vol.57, No.2 (2012), 145-152
Abstract: The enzyme 6-pyruvoyl-tetrahydropterin synthase (PTPS, gene symbol: PTS) is involved in the second step of the de novo biosynthesis of tetrahydrobiopterin (BH4), which is a vital cofactor of nitric oxide synthases and three types of aromatic amino acid hydroxylases; the latter are important enzymes in the production of neurotransmitters. We conducted a study of PTS mutations in East Asia, including Taiwan, Mainland China, Japan, South Korea, the Philippines, Thailand and Malaysia. A total of 43 mutations were identified, comprising 22 previously reported mutations and 21 new discovered mutations. Among these, the c.155A > G, c.259C > T, c. 272A > G, c.286G > A and c.84-291A > G mutations were the most common PTS mutations in East Asia, while the c.58T > C and c.243G > A mutations were, respectively, specific to Filipinos and Japanese originating from Okinawa. Further studies demonstrated that each of the mutations listed above was in linkage disequilibrium to a specific allele of polymorphic microsatellite marker, D11S1347. These results suggest the presence of founder effects that have affected these frequent mutations in East Asia populations. In this context, D11S1347 should become one of the most reliable polymorphic markers for use in prenatal diagnosis among PTPS deficient families, especially where mutations are yet to be identified. © 2012 The Japan Society of Human Genetics All rights reserved.
URI: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84863229713&origin=inward
http://repository.li.mahidol.ac.th/dspace/handle/123456789/13820
ISSN: 1435232X
14345161
Appears in Collections:Scopus 2011-2015

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