首页> 外国专利> Mutations within the diabetes - susceptibility genes for the hepatocytes core factors (hnf) hnf - 1alpha, hnf - 1beta and hnf - 4alpha

Mutations within the diabetes - susceptibility genes for the hepatocytes core factors (hnf) hnf - 1alpha, hnf - 1beta and hnf - 4alpha

机译:糖尿病中的突变-肝细胞核心因子(hnf)hnf-1alpha,hnf-1beta和hnf-4alpha的易感基因

摘要

The present invention relates generally to the fields diabetes. More particularly, it concerns the identification of genes responsible for NIDDM for use in diagnostics and therapeutics. The present invention demonstrates that the MODY3 locus is, in fact, the HNF-1α gene, MODY4 locus is the HN-F1β and the MODY1 locus is the HNF-4α gene. The invention further relates to the discovery that analysis of mutations in the HNF-1α, HNF-1β and HNF-4α genes can be diagnostic for diabetes. The invention also contemplates methods of treating diabetes in view of the fact that HNF-1α, HNF-1β and HNF-4α mutations can cause diabetes.
机译:本发明总体上涉及糖尿病领域。更具体地说,它涉及鉴定用于诊断和治疗的NIDDM的基因。本发明证明了MODY3基因座实际上是HNF-1α基因,MODY4基因座是HN-F1β,而MODY1基因座是HNF-4α基因。本发明还涉及以下发现:对HNF-1α,HNF-1β和HNF-4α基因中的突变进行分析可以诊断糖尿病。考虑到HNF-1α,HNF-1β和HNF-4α突变可引起糖尿病的事实,本发明还考虑了治疗糖尿病的方法。

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