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身材矮小相关基因研究进展 被引量：2

Genetic studies of short stature
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摘要 人类身高主要受下丘脑-垂体-生长激素轴调控，也受营养和体育锻炼等其他因素的影响，其中遗传因素是影响身高个体差异的主要原因，遗传度约为80%。目前国内外对导致身材矮小的基因分析已有较大的收获，与身高有关的基因达180多种。现就一些主要相关基因作一综述，主要包括腺垂体发育缺陷相关基因、生长激素释放激素-生长激素-胰岛素样生长因子1轴相关基因突变，以及其他相关基因突变和表现。 Human height is mainly regulated by the hypothalamus-pituitary-growth hormone axis, and also affected by other factors,such as nutrition and physical activity. Genetic factor is thought to be the main fac-tor,and genetic degree is about 80%. At present,genetic analysis in short stature has made great progresses both at home and abroad,and genes related to the height are more than 180. The article reviews some of the major genes related to the short stature,including the genes related to the adenohypophysis development,the genes re-lated to the GHRH-GH-IGF1 axis,as well as other related gene mutations and performance.
作者 沈文霞(综述) 邹朝春(审校)
机构地区 浙江大学医学院附属儿童医院内分泌科
出处 《国际儿科学杂志》 2015年第4期400-404,共5页 International Journal of Pediatrics
关键词 身材矮小 基因 基因分析 Short stature Gene Genetics
分类号 R734.2 [医药卫生—肿瘤]
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参考文献36

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二级参考文献12

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国际儿科学杂志
2015年 第4期

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