Gómez de la Concha Emilio
An R Acad Nac Med (Madr). 2009;126(2):229-38; discussion 238-41.
Common diseases are not inherited in a mendelian way, but have got anyway a genetic component, as shown by their increased frequency in siblings. Differences in the genome of individuals are not bigger than 0.1%, but are the reason why the susceptibility to diseases, their prognosis and the response to treatments differ. There are approximately ten million variations in the human genome, most of them single nucleotide polymorphisms (SNP) but also insertions, duplications, deletions, inversions and translocations. Two big international projects finished at the beginning of this century (The Human Genome Project and the HapMap Project) have paved the way to the study of these variations. The rapid technological advances allow today the study of one million SNPs at one time and it is forecasted that is some years the whole human genome will be sequenced in a few hours. All this is making possible new discoveries of the genetic variations that confer susceptibility to diseases, the location of new therapeutic targets and the beginning of a new medicine: personalized medicine.
常见疾病并非以孟德尔方式遗传,但无论如何都有遗传成分,这一点从其在兄弟姐妹中的发病率增加就可以看出。个体基因组的差异不超过0.1%,但这正是疾病易感性、预后以及对治疗反应存在差异的原因。人类基因组中大约有一千万种变异,其中大多数是单核苷酸多态性(SNP),但也有插入、重复、缺失、倒位和易位。本世纪初完成的两个大型国际项目(人类基因组计划和国际人类基因组单体型图计划)为研究这些变异铺平了道路。如今,快速的技术进步使得一次性研究一百万个SNP成为可能,预计再过几年,整个人类基因组将在几个小时内完成测序。所有这些都使得发现导致疾病易感性的遗传变异、确定新的治疗靶点以及开启一种新的医学——个性化医学成为可能。