2型糖尿病与葡萄糖酶基因的联系
A T Hattersley1, R C Turner, M A Permutt
1Nuffield Department of Clinical Medicine, Radcliffe Infirmary, Oxford, UK.
Lancet (London, England)
|May 30, 1992
概括
年轻人成熟期糖尿病 (MODY) 与一个家庭的葡萄糖酶基因有关,这表明有缺陷的基因有助于2型糖尿病. 然而,在其他研究的MODY家族中没有发现这种遗传联系.
科学领域:
- 遗传学 是一个遗传学.
- 内分泌学 在内分泌学.
- 分子生物学分子生物学
背景情况:
- 年轻人成熟期糖尿病 (MODY) 是一种具有自体主导遗传的单一性糖尿病形式.
- 葡萄糖激酶 (GCK) 是胰岛素分泌的关键调节剂,也是糖尿病候选基因.
- 调查MODY中的遗传缺陷对于理解糖尿病病原体至关重要.
研究的目的:
- 调查葡萄糖酶基因在两个不同的MODY血统中的作用.
- 为了确定葡萄糖酶基因的突变是否是MODY的常见原因.
主要方法:
- 微卫星多态性分析被用来评估联系.
- 基因链接分析是在BX.血统中的五代进行的.
- 在第二个MODY血统 (M) 中也进行了链接分析.
主要成果:
- 糖尿病与染色体7p上的葡萄糖激酶位点的联系在血统BX中被确定 (lod得分=4.60).
- 一个缺陷的葡萄糖酶基因被认为有助于血统BX.X的糖尿病表型.
- 在血统M中排除了与葡萄糖激酶位点的联系 (lod分数 = -7.36).
结论:
- 葡萄糖酶基因的缺陷可能会导致MODY和潜在的2型糖尿病的发病.
- MODY的遗传基础是异质的,而葡萄糖激素酶基因并不普遍存在.
- 对遗传缺陷的进一步研究对于了解各种形式的糖尿病至关重要.
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