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学科主题: 临床医学
题名:
Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations
作者: Chiu, Yen-Hui2,3; Chang, Ying-Chen1; Chang, Yu-Hsin2; Niu, Dau-Ming4; Yang, Yan-Ling5; Ye, Jun6; Jiang, Jianhui7; Okano, Yoshiyuki8; Lee, Dong Hwan9; Pangkanon, Suthipong10; Kuptanon, Chulaluck11; Hock, Ngu Lock12; Chiong, Mary Anne13; Cavan, Barbra V.14,15; Hsiao, Kwang-Jen2,3,16; Liu, Tze-Tze1,3
关键词: founder effect ; HPA ; microsatellite marker ; mutation ; PTPS deficiency
刊名: JOURNAL OF HUMAN GENETICS
发表日期: 2012-02-01
DOI: 10.1038/jhg.2011.146
卷: 57, 期:2, 页:145-152
收录类别: SCI
文章类型: Article
WOS标题词: Science & Technology
类目[WOS]: Genetics & Heredity
研究领域[WOS]: Genetics & Heredity
关键词[WOS]: 6-PYRUVOYL-TETRAHYDROPTERIN SYNTHASE DEFICIENCY ; TETRAHYDROBIOPTERIN SYNTHESIS DEFICIENCY ; NEWBORN SCREENING-PROGRAM ; EXONIC SPLICING ENHANCERS ; TERM-FOLLOW-UP ; MOLECULAR CHARACTERIZATION ; PSEUDOEXON ACTIVATION ; CHINESE ; HYPERPHENYLALANINEMIA ; PHENYLKETONURIA
英文摘要:

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. Journal of Human Genetics (2012) 57, 145-152; doi:10.1038/jhg.2011.146; published online 12 January 2012

语种: 英语
所属项目编号: NSC87 2314 B 010 085 ; VGH-384
项目资助者: National Science Council ; Taipei Veterans General Hospital, Taiwan
WOS记录号: WOS:000300826000011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/57641
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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作者单位: 1.Natl Yang Ming Univ, Genome Res Ctr, Taipei 112, Taiwan
2.Natl Yang Ming Univ, Inst Genet, Taipei 112, Taiwan
3.Taipei City Hosp, Dept Educ & Res, Taipei, Taiwan
4.Taipei Vet Gen Hosp, Dept Pediat, Taipei, Taiwan
5.Peking Univ First Hosp, Dept Pediat, Beijing, Peoples R China
6.Osaka City Univ, Grad Sch Med, Dept Pediat, Osaka 558, Japan
7.Prevent Med Fdn, Taipei, Taiwan
8.Soonchunhyang Univ Hosp, Dept Pediat, Seoul, South Korea
9.Kuala Lumpur Hosp, Paediatr Inst, Kuala Lumpur, Malaysia
10.Childrens Clin, Cebu, Philippines
11.Human Genet Informat Resource Ctr, Cebu, Philippines
12.Shanghai Jiao Tong Univ, Sch Med, Xinhua Hosp, Shanghai Inst Pediat Res,Dept Endocrinol & Gene M, Shanghai 200030, Peoples R China
13.Maternal & Neonatal Hosp Guangzhou, Guangzhou Neonatal Screening Ctr, Guangzhou, Peoples R China
14.Rangsit Univ, Coll Med, Queen Sirikit Natl Inst Child Hlth, Dept Pediat, Bangkok, Thailand
15.Mahidol Univ, Siriraj Hosp, Fac Med, Dept Pediat,Div Med Genet, Bangkok 10700, Thailand
16.Univ Philippines Manila, Natl Inst Hlth, Inst Human Genet, Manila, Philippines

Recommended Citation:
Chiu, Yen-Hui,Chang, Ying-Chen,Chang, Yu-Hsin,et al. Mutation spectrum of and founder effects affecting the PTS gene in East Asian populations[J]. JOURNAL OF HUMAN GENETICS,2012,57(2):145-152.
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