Happy families
Happy families
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幸福的家庭
DOI：
10.1136/ard.56.3.149
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发表时间：
1997
影响因子：
27.4
通讯作者：
J. Worthington
中科院分区：
文献类型：
--
作者：
B. Ollier;J. Worthington
格里高尔·孟德尔（Gregor Mendel）为遗传提供了解释，并为我们现在所理解的遗传学奠定了基础，距今不到一个世纪。回顾过去，也许更难相信的是，克里克和沃森与同事们确定了DNA的结构并破解了遗传密码，这仅仅是40多年前的事情。考虑到这段相对较短的时间，遗传学的所有领域都取得了巨大的进展，尤其是在医学领域，我们现在正处于一个指数级的发展阶段，医学界逐渐意识到，它正陷入一场新的基因革命的漩涡中。直到最近，医学遗传学相对局限，主要关注罕见的单基因疾病，其中疾病表型通常是明显的或戏剧性的，遗传模式已知。分子生物学近年来的显著进展催生了分子遗传学和对具有复杂多基因病因的常见疾病感兴趣的新一代遗传学家。这些疾病包括精神分裂症、哮喘、高血压、心脏病、恶性肿瘤以及各种自身免疫性疾病和关节炎。人类基因组计划（Human Genome Project）等重大举措催化了这种热情，该计划的目标是根据基因和序列描述所有人类DNA。随着信息技术的平行发展，这种数据很容易获得，多态微卫星重复序列等标记物的高密度遗传图谱现在可用于联系和关联研究。进一步的技术发展也在快速发生，DNA测序和DNA多态性基因分型的方法已经在很大程度上自动化了，这导致了大量样品的潜在吞吐量和“工厂遗传学”的发展。世界各地的许多中心已经在建立复杂疾病的主要研究方案方面进行了大量投资，私营部门和制药业现在也采取了同样的做法。
Barely a century has passed since Gregor Mendel provided the explanation for inheritance and a foundation for what we now understand as genetics. Looking back it is perhaps even harder to believe that it is only just over 40 years on from Crick and Watson, who with coworkers determined the structure of DNA and cracked the genetic code. Given this comparatively short period of time, progress has been dramatic in all areas of genetics, but particularly so in medicine where we are now in an exponential phase of development and the profession is gradually realising that it is caught up in the spiral of a new genetic revolution.Until recently medical genetics was relatively circumscribed and mainly concerned with rare monogenic conditions where the disease phenotype was often obvious or dramatic and the mode of inheritance known. Phenomenal recent progress in molecular biology has spawned molecular genetics and a new strain of geneticist interested in common conditions with a complex and polygenic aetiology. These include such conditions as schizophrenia, asthma, hypertension, heart disease, malignancies, and a wide range of autoimmune and arthritic conditions. This enthusiasm has been catalysed by major initiatives such as the Human Genome Project where the objective is to characterise all human DNA in terms of genes and sequence. With parallel advances in information technology such data are readily accessible and high density genetic maps of markers, such as polymorphic microsatellite repeats, are now available for linkage and association studies. Further technological developments have also been occurring at a pace and the methods for both DNA sequencing and the genotyping of DNA polymorphisms have been largely automated leading to a potential for vast throughput of samples and the development of ‘factory genetics’. Many centres world wide have already invested heavily in setting up major research programmes for complex disease and this is now being mirrored by the private sector and the pharmaceutical industry.