Genetic and genomic approaches to studying stature and pubertal timing.
Genetic and genomic approaches to studying stature and pubertal timing.
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研究身高和青春期时间的遗传和基因组方法。
DOI：
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发表时间：
2005
期刊：
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通讯作者：
J. Hirschhorn
中科院分区：
文献类型：
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作者：
J. Hirschhorn
身高和青春期时间是两个复杂的遗传性状，由于遗传和环境因素的结合，在人群中差异很大。罕见突变可以解释一小部分严重矮小，但罕见突变不太可能解释大多数特发性矮小或大多数身高或青春期时间的人群变异。在这篇综述中，我们讨论了如何关联和连锁研究，结合新的基因组技术，将使研究人员调查这些性状的变异基因。关联和连锁研究要取得成功，大样本和仔细的解释是关键。
Stature and puberal timing are two complex genetic traits that vary widely within a population due to a combination of genetic and environmental factors. Rare mutations explain a fraction of severe short stature, but rare mutations are less likely to explain most of idiopathic short stature or most of the population variation in height or the timing of puberty. In this review, we discuss how association and linkage studies, in conjunction with new genomic technologies, will allow researchers to survey genes for the variants that underlie these traits. For both association and linkage studies to be successful, large samples and careful interpretation are critical.