FABP2基因及其多态性与脂代谢关系的研究  

Association of FABP2 gene and its polymorphism with lipid metabolism

作　　者：常晓彤[1] 侯丽娟[1] 王振辉[2] 

机构地区：[1]河北北方学院生物化学教研室,河北张家口075000 [2]解放军第251医院检验科,河北张家口075000

出　　处：《军事医学科学院院刊》2008年第2期192-195,共4页Bulletin of the Academy of Military Medical Sciences

基　　金：河北省教育厅基金资助(2006307)

摘　　要：小肠型脂肪酸结合蛋白（FABP2）基因定位于人染色体4q28-q31，特异地表达于小肠上皮吸收细胞，与食物中长链脂肪酸（LCFA）的吸收、靶向运输及代谢密切相关。FABP2基因第2外显子54位点存在单核苷酸多态性，即Ala54Thr。近年研究发现，突变型54TFABP2与血脂障碍以及代谢综合征的其他特征相关。本文拟从FABP2基因的结构、功能、基因表达调控及其多态性与脂代谢关系作一综述。The intestinal fatty acid-binding protein （FABP2） gene is located on the long arm of chromosome 4 at 4q28-q31. The Mr 15 × 10^3 FABP2 is expressed specifically in small intestine epithelium absorptive cells, which are associated with the absorption, targeting transport and metabolism of dietary saturated and unsaturated long-chain fatty acids （LCFA）. The FABP2 gene has 1 point mutation in the second exon of the structural gene which can be identified at codon 54（ G→A） ,resulting in an amino acid substitution （A54→T54）. More recent studies showed that the alanine （A） to threonine （T） substitution at codon 54 of the FABP2 was associated with dyslipidemia and other characteristics of the metabolic syndrome. In this article, the progress in research into the structure, functions and gene expression regulation of FABP2 gene and the relationship between FABP2 gene polymorphism and lipid metabolism are reviewed according to the data published in recent years.

关 键 词：小肠型脂肪酸结合蛋白 基因 多态性 单核苷酸 脂代谢 

分 类 号：R589[医药卫生—内分泌]