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dc.contributor.authorYen Hui Chiuen_US
dc.contributor.authorYing Chen Changen_US
dc.contributor.authorYu Hsin Changen_US
dc.contributor.authorDau Ming Niuen_US
dc.contributor.authorYan Ling Yangen_US
dc.contributor.authorJun Yeen_US
dc.contributor.authorJianhui Jiangen_US
dc.contributor.authorYoshiyuki Okanoen_US
dc.contributor.authorDong Hwan Leeen_US
dc.contributor.authorSuthipong Pangkanonen_US
dc.contributor.authorChulaluck Kuptanonen_US
dc.contributor.authorNgu Lock Hocken_US
dc.contributor.authorMary Anne Chiongen_US
dc.contributor.authorBarbra V. Cavanen_US
dc.contributor.authorKwang Jen Hsiaoen_US
dc.contributor.authorTze Tze Liuen_US
dc.contributor.otherNational Yang-Ming University Taiwanen_US
dc.contributor.otherTaipei City Hospital Taiwanen_US
dc.contributor.otherVeterans General Hospital-Taipeien_US
dc.contributor.otherPeking Universityen_US
dc.contributor.otherShanghai Jiao Tong Universityen_US
dc.contributor.otherGuangzhou Maternal and Neonatal Hospitalen_US
dc.contributor.otherOsaka City Universityen_US
dc.contributor.otherSoonchunhyang University, College of Medicineen_US
dc.contributor.otherRangsit Universityen_US
dc.contributor.otherMahidol Universityen_US
dc.contributor.otherKuala Lumpur Hospitalen_US
dc.contributor.otherUniversity of the Philippines Manilaen_US
dc.contributor.otherChildren's Clinic and Human Genetics Information Resource Centeren_US
dc.contributor.otherPreventive Medicine Foundationen_US
dc.contributor.otherChang Gung Medical Foundationen_US
dc.identifier.citationJournal of Human Genetics. Vol.57, No.2 (2012), 145-152en_US
dc.description.abstractThe 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.en_US
dc.rightsMahidol Universityen_US
dc.subjectBiochemistry, Genetics and Molecular Biologyen_US
dc.titleMutation spectrum of and founder effects affecting the PTS gene in East Asian populationsen_US
Appears in Collections:Scopus 2011-2015

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