Mattick John S
Institute for Molecular Bioscience, University of Queensland, St Lucia, QLD 4072, Australia.
Med J Aust. 2003 Aug 18;179(4):212-6. doi: 10.5694/j.1326-5377.2003.tb05505.x.
The draft human genome sequence (about 3 billion base pairs) was completed in 2001. Humans have fewer protein-coding genes than expected, and most of these are highly conserved among animals. Humans and other complex organisms produce massive amounts of non-coding RNAs, which may form another level of genetic output that controls differentiation and development. Aside from classical monogenic diseases and other differences caused by mutations and polymorphisms in protein-coding genes, much of the variation between individuals, including that which may affect our predispositions to common diseases, is probably due to differences in the non-coding regions of the genome (ie, the control architecture of the system). Within 10 years we can expect to see: increased penetration of DNA diagnostic tests to assess risk of disease, to diagnose pathogens, to determine the best treatment regimens, and for individual identification; a range of new pharmaceuticals as well as new gene and cell therapies to repair damage, to optimise health and to minimise future disease risk; and medicine become increasingly personalised, with the knowledge of individual genetic make-up and lifestyle influences.
人类基因组序列草图（约30亿个碱基对）于2001年完成。人类的蛋白质编码基因比预期的要少，而且其中大多数在动物中高度保守。人类和其他复杂生物会产生大量的非编码RNA，这可能构成控制分化和发育的另一层次的基因输出。除了经典的单基因疾病以及蛋白质编码基因突变和多态性引起的其他差异外，个体之间的许多差异，包括可能影响我们患常见疾病易感性的差异，可能是由于基因组非编码区的差异（即系统的控制结构）。在未来10年内，我们有望看到：DNA诊断测试在评估疾病风险、诊断病原体、确定最佳治疗方案以及个体识别方面的普及率提高；一系列新的药物以及新的基因和细胞疗法用于修复损伤、优化健康状况并将未来疾病风险降至最低；随着对个体基因组成和生活方式影响的了解，医学变得越来越个性化。
