A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, "Osaka," in Asians

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dc.contributor.authorOkano, Yoshiyuki
dc.contributor.authorAsada, Minoru
dc.contributor.authorFujimoto, Akie
dc.contributor.authorOhtake, Akira
dc.contributor.authorMurayama, Koichiro
dc.contributor.authorHsiao, Kwang-Jen
dc.contributor.authorChoeh, Kyuchul
dc.contributor.authorYang, Yanling
dc.contributor.authorCao, Qixiang
dc.contributor.authorReichardt, Juergen KV
dc.contributor.authorNiihira, Shizuhiro
dc.contributor.authorImamura, Takuji
dc.contributor.authorYamono, Tsunekazu
dc.date.accessioned2019-08-14T14:58:24Z
dc.date.available2019-08-14T14:58:24Z
dc.date.issued2001
dc.description.abstractGalactokinase (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 GALKdeficiency. GALK activity and the amount of immunoreactive protein in the mutant were both 20% of normal construct in expression analysis. The Km 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%; ) in Japanese individuals with bilateral P ! .023 cataract. This variant probably originated in Japanese and Korean ancestors and is one of the genetic factors that causes cataract in elderly individuals.
dc.description.urihttps://www.cell.com/ajhg/fulltext/S0002-9297(07)61428-1
dc.identifierhttps://doi.org/10.13016/4a3a-ib2y
dc.identifier.citationOkano, Yoshiyuki and Asada, Minoru and Fujimoto, Akie and Ohtake, Akira and Murayama, Koichiro and Hsiao, Kwang-Jen and Choeh, Kyuchul and Yang, Yanling and Cao, Qixiang and Reichardt, Juergen KV and Niihira, Shizuhiro and Imamura, Takuji and Yamono, Tsunekazu (2001) A Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, "Osaka," in Asians. American Journal of Human Genetics, 68 (4). pp. 1036-1042.
dc.identifier.otherEprint ID 161
dc.identifier.urihttp://hdl.handle.net/1903/22351
dc.subjectHealth
dc.subjectResearch
dc.subjectGenetics and Race
dc.subjectcataract
dc.subjectAsians
dc.subjectgalactokinase deficiency
dc.subjectGALK
dc.subjectOsaka variant
dc.titleA Genetic Factor for Age-Related Cataract: Identification and Characterization of a Novel Galactokinase Variant, "Osaka," in Asians
dc.typeArticle

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