上海交通大学学报（医学版）

›› 2011, Vol. 31 ›› Issue (5): 663-.doi: 10.3969/j.issn.1674-8115.2011.05.029

• 综述 • 上一篇    下一篇

Pax6基因突变与胰腺发育和糖尿病发生关系的研究进展

陆玉凤1,2, 刘丽梅1   

  1. 1.上海交通大学附属第六人民医院内分泌代谢科 |上海市糖尿病研究所, 上海 200233； 2.苏州大学, 苏州 215006
  • 出版日期:2011-05-28 发布日期:2011-05-27
  • 通讯作者: 刘丽梅, 电子信箱: lmliu@sjtu.edu.cn。
  • 作者简介:陆玉凤(1987—), 女, 硕士生；电子信箱: luyufeng870101@163.com。
  • 基金资助:

    国家自然科学基金(30771022)和上海市科委基金(10XD1403400）

Research progress of Pax6 gene mutation and development of pancreas and diabetes mellitus

LU Yu-feng1,2, LIU Li-mei1   

  1. 1.Shanghai Diabetes Institute, Department of Endocrinology and Metabolism,the Sixth People's Hospital, Shanghai Jiaotong University, Shanghai 200233, China；2.Suzhou University, Suzhou 215006, China
  • Online:2011-05-28 Published:2011-05-27
  • Supported by:

    National Natural Science Foundation of China, 30771022；Shanghai Science and Technology Committee Foundation, 10XD1403400

PDF (PC)

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摘要：

配对盒因子6（Pax6）基因是Pax多基因转录因子家族成员之一，是与胰腺发育、α细胞分化、高血糖素基因的转录和激活、β细胞功能以及胰岛素表达密切相关的关键转录因子，在众多调节β细胞发育的基因中发挥中心作用，其突变/变异已成为糖耐量异常和早发糖尿病的致病原因或易感位点。该文就Pax6基因突变与胰腺发育及糖尿病发病关系的研究进展进行综述。

关键词: 配对盒因子6基因, 突变, 胰腺发育, 糖尿病

Abstract:

Paired box 6(Pax6) is one of the members of Pax polygene transcription factor family, and plays an important role in the development of pancreas, α cell differentiation, transcription and activation of glucagon gene, β cell function and expression of insulin. Pax6 is the major gene in regulating the development of β cells, and its mutation contributes to the pathogenesis of impaired glucose tolerance and early-onset diabetes mellitus. The research progress of associations of Pax6 mutation with development of pancreas and diabetes mellitus is reviewed in this paper.

Key words: paired box 6 gene, mutation, pancreatic development, diabetes mellitus