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学科主题: 临床医学
题名:
A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant, "Osaka," in Asians
作者: Okano, Y; Asada, M; Fujimoto, A; Ohtake, A; Murayama, K; Hsiao, KJ; Choeh, K; Yang, YL; Cao, QX; Reichardt, JKV; Niihira, S; Imamura, T; Yamano, T
刊名: AMERICAN JOURNAL OF HUMAN GENETICS
发表日期: 2001-04-01
卷: 68, 期:4, 页:1036-1042
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]: MOLECULAR CHARACTERIZATION ; GALACTOSE METABOLISM ; JAPANESE PATIENTS ; GAL OPERON ; DEFICIENCY ; MUTATIONS ; POLYMORPHISM ; CLONING ; HUMANS
英文摘要:

Galactokinase (GALK) deficiency is an autosomal recessive disorder characterized by hypergalactosemia and cataract formation. Through mass screening of newborn infants, we identified a novel and prevalent GALK variant (designated here as the "Osaka" variant) associated with an A198V mutation in three infants with mild GALK deficiency. GALK activity and the amount of immunoreactive protein in the mutant were both 20% of normal construct in expression analysis. The K-m values for galactose and ATP-Mg2+ in erythrocytes with homozygous A198V were similar to those of the healthy adult control subjects. A population study for A198V revealed prevalences of 4.1% in Japanese and 2.8% in Koreans, lower incidence in Taiwanese and Chinese, no incidence in blacks and whites from the United States, and a significantly high frequency (7.8%; P<.023) in Japanese individuals with bilateral cataract. This variant probably originated in Japanese and Korean ancestors and is one of the genetic factors that causes cataract in elderly individuals.

语种: 英语
WOS记录号: WOS:000167666000023
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/59852
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.Eulji Med Coll, Dept Pediat, Taejon, South Korea
2.Peking Univ, Hosp 1, Dept Pediat, Peking, Peoples R China
3.Natl Yang Ming Univ, Inst Genet, Taipei 112, Taiwan
4.Osaka City Univ, Grad Sch Med, Dept Pediat, Abeno Ku, Osaka 5458585, Japan
5.Osaka City Environm & Publ Hlth Assoc, Osaka, Japan
6.Saitama Med Sch, Dept Pediat, Moroyama, Saitama, Japan
7.Saitama Med Sch, Dept Ophthalmol, Moroyama, Saitama, Japan
8.Vet Gen Hosp, Dept Med Res & Educ, Taipei, Taiwan
9.Osaka City Univ, Fac Human Life Sci, Dept Human Dev & Welf, Osaka 5458585, Japan
10.Shanghai Children Hosp, Neonatal Screening Ctr, Shanghai, Peoples R China
11.Univ So Calif, Kech Sch Med, Dept Biochem & Mol Biol, Los Angeles, CA USA
12.Univ So Calif, Kech Sch Med, Inst Med Genet, Los Angeles, CA USA

Recommended Citation:
Okano, Y,Asada, M,Fujimoto, A,et al. A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant, "Osaka," in Asians[J]. AMERICAN JOURNAL OF HUMAN GENETICS,2001,68(4):1036-1042.
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