Yamamoto Toshiyuki
Tokyo Women's Medical University, Institute for Integrated Medical Sciences, Tokyo.
No To Hattatsu. 2012 Jul;44(4):277-83.
Over the last three decades, many disease-responsible genes have been identified due to advancement of technologies in molecular biology. Methodologies to identify disease-responsible genes have been changed according to the history. Although large subject numbers were needed previously, valuable data derived from only one rare patient have led to identify some disease-responsible genes. Recently launched next-generation sequencers have heralded the new personal genome era. We should know that we may be able to identify some disease-responsible genes by the investigation of only one patient who we meet at the bed side.
在过去三十年中，由于分子生物学技术的进步，许多致病基因已被鉴定出来。随着时间的推移，鉴定致病基因的方法也发生了变化。虽然以前需要大量的研究对象，但仅从一名罕见患者身上获得的宝贵数据也已促使一些致病基因得以鉴定。最近推出的新一代测序仪预示着新的个人基因组时代的到来。我们应该明白，通过对我们在床边遇到的仅一名患者进行研究，我们或许就能鉴定出一些致病基因。
