Hirschhorn Joel N
Children's Hospital/Harvard Medical School, Boston, MA 02115, USA.
Pediatr Endocrinol Rev. 2005 Feb;2 Suppl 3:351-4.
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.
身高和青春期发育时间是两个复杂的遗传性状，由于遗传和环境因素的综合作用，在人群中差异很大。罕见突变可解释一部分严重身材矮小的情况，但罕见突变不太可能解释大多数特发性身材矮小或身高或青春期发育时间的大部分人群差异。在本综述中，我们讨论了关联研究和连锁研究如何与新的基因组技术相结合，使研究人员能够筛查导致这些性状的基因变异。要使关联研究和连锁研究都取得成功，大样本和仔细解读至关重要。
