Kisspeptin 1基因单核苷酸多态性与生长激素缺乏性侏儒症的相关性研究

Relativity study on single nucleotide polymorphism of Kisspeptin 1 gene with growth hormone deficiency dwarfism

目的分析河南地区生长激素缺乏性侏儒症(GHDD)患者及正常人群中Kisspeptin 1(Kiss-1)基因的单核苷酸多态性,以明确二者之间的相关性。方法随机选取初步确诊的GHDD患者60例作为GHDD组,同期、同年龄、同性别身高正常的健康儿童60例作为对照组。提取全血DNA,采用聚合酶链反应序列特异性引物方法(PCR SSP)对所有研究对象的Kisspeptin-1基因单核苷酸多态性位点(SNP)进行基因检测,分析并比较C.-89及c.-145SNP位点的基因型构成比及等位基因频率。结果对照组和GHDD组患者中均未检测到Kisspeptin-1基因单核苷酸多态性改变;GHDD组患者c.-145(rs5780218)位点和C.-89(rs3924587)位点基因型构成比及等位基因频率与对照组相比差异均无统计学意义(P>0.05)。结论 Kisspeptin-1基因rs5780218及rs3924587位点多态性与GHDD的发生无明显相关,但此次样本数量较少,有地区特性,该结论只在河南地区GHDD患者中成立。

Objective To identify a possible relationship between Kisspeptin-1 gene single nucleotide polymorphism and growth hormone deficiency dwarfism(GHDD).Methods A group of children diagnosed as GHDD and a group of healthy age-and gender-matched children(n=60,each)were included in this study.Two single nucleotide polymorphisms in the Kisspeptin-1 gene(rs5780218 and rs3924587)were typed.Genomic DNA was extracted,by using PCR.The expression and rs5780218 and rs3924587 SNP profile of the Kisspeptin-1 gene were compared.Results Genetic analysis indicated that there were no polymorphisms or mutations in the control group and the GHDD group.No significant differences were observed in genotype frequencies between the two groups.Conclusion The polymorphisms of Kisspeptin-1 gene(rs5780218 and rs3924587 SNP)are not significantly associated with the occurrence of GHDD,but the conclusion would be established only in Henan region GHDD patients due to the small quantity in this study and its inherent regional characteristics.