江苏汉族人生长激素受体基因多态性研究

An Analysis of Growth Hormone Receptor Gene Polymorphism for Han Population in Jiangsu Province

为了解生长激素受体(GHR)基因多态性在江苏汉族人群中的分布,通过多重PCR及PCR-RFLP的方法对269例江苏地区正常汉族人进行GHR基因3个位点的多态性分析,并与文献中报道的其它种族和地区的人群进行比较分析.结果显示江苏地区汉族正常人群中GHR基因型以fl/fl、I/L、P/P发生频率最高,这种分布在男女之间没有差异,与其它地区汉族人比较没有明显差异,与日本人差异也不明显,而与法国、俄罗斯人差异明显.研究表明,GHR基因3个位点多态性在不同种族之间分布存在着明显的差异,这种差异有可能是导致不同种族间人体测量学差异及对一些疾病的易感性及对药物的反应性不同的因素之一.

Growth hormone （GH） is secreted by the somatotroph cells of the anterior pituitary gland into the systemic circulation. Although its main function is to promote postnatal longitudinal growth, GH exerts numerous additional metabolic functions, such as regulation of lipid metabolism, bone apposition, skeletal and cardiac muscle mass growth, and arterial pressure. The first step of the growth hormone action is the binding of growth hormone to the growth hormone receptor （GHR）, followed by the activation of the JAK-STAT pathway and subsequent increase in expression of IGF1 and other growth hormone-dependent genes. Hence, the polymorphisms of GHR gene may play a role in several common diseases. In the present study, three polymorphisms in the exons of GHR gene were selected, and this study was designed to explore the distribution of three loci gene polymorphism of GHR in the population of Han rationality. PCR and PCR-RFLP were used to analyze 269 health subjects and comparison was made between Chinese and Caucasian population. The frequencies of genotypes fi/fi, I/L, P/P were much higher than the others in the Han population in Jiangsu Province, and the distribution of GHR gene polymorphism was similar between female and male subjects, and it was also similar to Japanese and the Han population of other region. However, there was significant difference between the Han population and other races, such as French and Russian. The different distribution of growth hormone receptor gene polymorphism may be one of the factors that account for differences of anthropometric measurements, susceptibility to diseases, and response to drugs among different races.