Permutt M A, Hattersley A T
Division of Metabolism, Endocrinology and Diabetes, Washington University School of Medicine, 660 South Euclid, Box 8127, St Louis, MO 63110, USA.
Trends Endocrinol Metab. 2000 Nov;11(9):383-93. doi: 10.1016/s1043-2760(00)00329-5.
The discovery of genes encoding maturity onset diabetes of the young (MODY) type 2 diabetes mellitus (T2DM) represents a milestone in the study of the genetics of complex diseases. The genes were revealed, in large part, through positional cloning and linkage analysis in families. The genes are relatively rare and have strong genotype-phenotype correlations. Based on the results of several genome scans for genes encoding T2DM in various racial-ethnic groups, it appears that, as in other complex diseases, multiple genes are involved, each contributing a small amount to the overall risk. New strategies for patient sampling, phenotyping, genotyping technologies and genetic analysis must be employed to further define the genetic basis of this disease.
编码青年发病型成年型糖尿病(MODY)2型糖尿病(T2DM)基因的发现,是复杂疾病遗传学研究中的一个里程碑。这些基因很大程度上是通过对家族进行定位克隆和连锁分析而揭示出来的。这些基因相对罕见,且具有很强的基因型-表型相关性。基于对不同种族-族裔群体中编码T2DM基因的多项全基因组扫描结果,似乎与其他复杂疾病一样,涉及多个基因,每个基因对总体风险的贡献都很小。必须采用患者采样、表型分型、基因分型技术和遗传分析的新策略,以进一步明确这种疾病的遗传基础。