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Title: Mutational Analysis of the Melanocortin-4 Receptor Gene in Chinese Children with Obesity
台灣肥胖學童Melanocortin-4 Receptor基因多形性分析
Authors: Lin, Cheng-Chieh;Liu, Chiu-Shong;Wang, Nancy M.;Chen, Chih-Mei;Li, Tsai-Chung;Hsu, Shih-Kuan;Chen, Walter
Contributors: 生物技術研究所
Keywords: Chinese;Early onset obesity;MC4-R;Polymerase chain reaction
Date: 2003-06
Issue Date: 2012-06-06T02:04:48Z
Publisher: 中臺灣醫學科學雜誌社
Abstract: Objectives. The melanocortin system is involved in physiological regulation of homeostasis. The melanocortin-4 receptor (MC4R) in the hypothalamus is thought to be important in controlling feeding behavior. Genetic studies have identified two mutations, Ser-30-Phe and Asp298-Asn, of MC4-R which are associated with dominant forms of inherited obesity. Methods. In order to examine whether these two mutations are associated, with the development of early-onset obesity in the Chinese population, we used a polymerase chain reaction-base analysis to analyze the MC4R genotypes of 92 obese and 185 non-obese children. Results. No mutations were detected in any of the individuals that were screened in this study. However, two novel polymorphisms, Ile-1O3 and Ile-297, were identified in both obese and normal individuals which were associated with the phenotypes under study. Conclusions. It seems that the Ser-30-Phe and Asp-298-Asn mutations do not contribute to inherited susceptibility to early-onset obesity in Chinese children.
目的 Melanocortin系統與身體熱量平衡的調節有關,在下視丘的Melanocortin-4 受體(MC4-R)被認為與攝食行為有密切關係。最近的基因研究顯示Ser-30-Phe及Asp298- Asn這兩個突變與顯性遺傳型的肥胖有關。方法 為檢驗上述兩種突變是否為中國人早發性肥胖之因子,我們以聚合?鏈鎖反應基分析法分析92位肥胖與185位非肥胖小孩之MC4R基因型。結果所有受檢小孩並未發現有上述的突變現象。進一步分析在肥胖者及非肥胖者均發現兩個新的突變: Ile-103及Ile-297。結論 Ser-30- Phe及Asp-298-Asn的突變似與中國人種的體重調節無關。
Relation: Mid-Taiwan Journal of Medicine, 8(2): 66-72
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