Department of Genetic Medicine and Development, University of Geneva Medical School, Geneva, Switzerland.
Clin Genet. 2013 Nov;84(5):422-8. doi: 10.1111/cge.12272. Epub 2013 Sep 23.
There are approximately 3000 human protein-coding genes that have been linked with (near) monogenic disorders. This knowledge reflects the past and present focus on protein-coding genes as the main reservoir of pathogenic variation in the human genome. However, the 'Medical Genome' includes all the functional genomic elements for which genotypic variability is a source of pathogenic phenotypes. This short review focuses on examples of pathogenic variants in non-protein-coding gene regions. It is likely that the evolving methods of DNA sequencing and functional characterization of the genome will enhance our understanding of the contribution by all functional genomic elements in both Mendelian and complex phenotypes.
大约有 3000 个人类蛋白编码基因与（近）单基因疾病有关。这一知识反映了过去和现在对蛋白编码基因的关注，将其作为人类基因组中致病变异的主要来源。然而，“医学基因组”包括所有功能基因组元件，其基因型变异性是致病表型的来源。这篇简短的综述主要关注非蛋白编码基因区域的致病变异示例。随着 DNA 测序方法和基因组功能特征分析的不断发展，我们很可能会加深对所有功能基因组元件在孟德尔和复杂表型中作用的理解。
