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Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Lu, YB; Kobayashi, K; Ushikai, M; Tabata, A; Iijima, M; Li, MX; Lei, L; Kawabe, K; Taura, S; Yang, YL; Liu, TT; Chiang, SH; Hsiao, KJ; Lau, YL; Tsui, LC; Lee, DH; Saheki, T
关键词adult-onset type II citrullinemia (CTLN2) aspartate-glutamate carrier (AGC) citrin carrier frequency SLC25A13 D7S1812
刊名JOURNAL OF HUMAN GENETICS
2005-07-01
DOI10.1007/s10038-005-0262-8
50期:7页:338-346
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]ASPARTATE GLUTAMATE CARRIER ; II CITRULLINEMIA CTLN2 ; LIVER-TRANSPLANTATION ; UREA CYCLE ; POPULATIONS ; FEASIBILITY ; THERAPY
英文摘要

Deficiency of citrin, a liver-type mitochondrial aspartate-glutamate carrier (AGC), encoded by the SLC25A13 gene on chromosome 7q21.3, causes autosomal recessive disorders: adult-onset type II citrullinemia (CTLN2) and neonatal hepatitis associated with intrahepatic cholestasis (NICCD). So far, we have described 12 SLC25A13 mutations: 11 were from Japan and one from Israel. Three mutations found in Chinese and Vietnamese patients were the same as those in Japanese patients. In the present study, we identified a novel mutation IVS6+1G > C in a Japanese CTLN2 patient and widely screened 12 SLC25A13 mutations found in Japanese patients in control individuals from East Asia to confirm our preliminary results that the carrier frequency was high in Asian populations. Mutations 851-854del and 1638-1660dup were found in all Asian countries tested, and 851-854del associated with 290-haplotype in microsatellite marker D7S1812 was especially frequent. Other mutations frequently detected were IVS11+1G > A in Japanese and Korean, S225X in Japanese, and IVS6+5G > A in Chinese populations. We found a remarkable difference in carrier rates in China (including Taiwan) between north (1/940) and south (1/48) of the Yangtze River. We detected many carriers in Chinese (64/4169 = 1/65), Japanese (20/1372 = 1/69) and Korean (22/2455 = 1/112) populations, suggesting that over 80,000 East Asians are homozygotes with two mutated SLC25A13 alleles.

语种英语
WOS记录号WOS:000231421800003
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被引频次:62[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66643
专题北京大学第一临床医学院_儿科
作者单位1.Natl Yang Ming Univ, Genome Res Ctr, Taipei 112, Taiwan
2.Taipei Vet Gen Hosp, Taipei, Taiwan
3.Soonchunhyang Univ, Dept Pediat, Seoul, South Korea
4.Kagoshima Univ, Dept Mol Metab & Biochem Genet, Grad Sch Med & Dent Sci, Kagoshima 8908544, Japan
5.Kagoshima Univ, Div Gene Res, Res Ctr Life Sci Resources, Kagoshima 8908544, Japan
6.Peking Univ, First Hosp, Dept Pediat, Beijing 100871, Peoples R China
7.Univ Hong Kong, Dept Pediat & Adolescent Med, Hong Kong, Hong Kong, Peoples R China
8.Univ Hong Kong, Vice Chancellors Off, Hong Kong, Hong Kong, Peoples R China
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Lu, YB,Kobayashi, K,Ushikai, M,et al. Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency[J]. JOURNAL OF HUMAN GENETICS,2005,50(7):338-346.
APA Lu, YB.,Kobayashi, K.,Ushikai, M.,Tabata, A.,Iijima, M.,...&Saheki, T.(2005).Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency.JOURNAL OF HUMAN GENETICS,50(7),338-346.
MLA Lu, YB,et al."Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency".JOURNAL OF HUMAN GENETICS 50.7(2005):338-346.
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