Risch N J
Department of Genetics, Stanford University School of Medicine, California 94305-5120, USA.
Nature. 2000 Jun 15;405(6788):847-56. doi: 10.1038/35015718.
Human genetics is now at a critical juncture. The molecular methods used successfully to identify the genes underlying rare mendelian syndromes are failing to find the numerous genes causing more common, familial, non-mendelian diseases. With the human genome sequence nearing completion, new opportunities are being presented for unravelling the complex genetic basis of non-mendelian disorders based on large-scale genome-wide studies. Considerable debate has arisen regarding the best approach to take. In this review I discuss these issues, together with suggestions for optimal post-genome strategies.
人类遗传学如今正处于关键转折点。过去成功用于识别罕见孟德尔综合征潜在基因的分子方法,在寻找导致更常见的、家族性的、非孟德尔疾病的众多基因方面却无能为力。随着人类基因组序列即将完成,基于大规模全基因组研究来揭示非孟德尔疾病复杂遗传基础的新机遇正在出现。关于采取何种最佳方法已引发了相当多的争论。在这篇综述中,我将讨论这些问题,并提出关于最佳后基因组策略的建议。