青春期性早熟儿童存在kisspeptin 1基因突变|医盟日报
Background/背景
Considering the role of kisspeptin (KISS) in the process of puberty, this study aimed to determine the mutation of KISS 1 gene among a group of patients with idiopathic central precocious puberty (ICPP).
Kisspeptin（KISS）基因在青春期过程中具有重要作用，本项研究目的在于评估 KISS 1基因突变在特发性中枢性性早熟（ICPP）儿童患者中的作用。
Methods/方法
In this case control study, a group of children with diagnosed ICPP and a group of healthy children were selected. Genomic DNA was extracted from peripheral blood of selected population. After proving the quality and quantity of extracted DNA samples by nano-drop instrument, PCR was performed using 3 set of primers to amplify all coding exons and flanking intron region of Kiss1 gene.
这是一项病例对照研究，研究纳入了一组确诊为ICPP的儿童患者和一组健康儿童。从受试者的外周血中提取染色体DNA。在用分光光度计验证过提取DNA样本的质量和数量后，通过PCR技术，利用3套引物，对KISS 1基因所有编码外显子和侧翼内含子区域进行扩增。
Results/结果
In this study, 33 patients with idiopathic PP and 30 control age and sex matched children were studied. Genetic analysis indicated that there was not any polymorphism or mutation in studied participants of the control group. Among patients with ICPP, 4 single nucleotide polymorphisms within the promoter and coding regions of KISS1 gene were determined in 9 patients (5 boys and 4 girls). Among them, the c.-148 T > A was novel variant.
Conclusions/结论
The results of the current study identified one novel polymorphism and three reported polymorphism in KISS gene among patients with ICPP. It is recommended to design further studies for analysis other genes related to ICPP in accordance with more complementary biochemical evaluations is recommended also.
研究表明，ICPP儿童患者的KISS基因存在一种全新的多态性改变和3个已经报道的多态性改变。研究者推荐应该对与ICPP相关的其他基因进行更多的分析，进行更多的生化方面的互补性评估。
Source/来源
Int J Prev Med. 2015; 6: 41.Published online 2015 May 11. doi: 10.4103/2008-7802.156839
