Department of Pediatric Endocrinology and Metabolism, Imam Reza Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Immunology Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
Ital J Pediatr. 2019 Jan 11;45(1):10. doi: 10.1186/s13052-019-0601-6.
Puberty can be considered the end point of a maturation process which is defined by the dynamic interactions of genes and environmental factors during prenatal and postnatal development. Kisspeptin/G protein-coupled receptor-54, is as an essential gatekeeper and regulator of GnRH neurons, and a key factor in initiation of puberty. Loss and gain of functional mutations in the GPR54 gene are associated with hypogonadotropic hypogonadism and precocious puberty, respectively. This study was designed to evaluate variations of GPR54 in familial precocious puberty.
Genomic DNA was extracted from peripheral whole blood of 25 subjects with familial precocious puberty. Coding exons 1-5 of the GPR54 gene were amplified by polymerase chain reaction (PCR) and the PCR products were purified and sequenced. DNA sequences were compared to the human GenBank GPR54 sequence using Sequencher sequence alignment software.
We detected three different Single Nucleotide Polymorphisms (SNPs) in GPR54: rs10407968 (24A > T) in 13 subjects (52%); rs3050132 (1091 T > A) in 16 subjects (64%), and a novel polymorphism (492C > G) in one subject (4%), while three subjects (12%) had no SNPs. No mutations were found in the GPR54 gene.
Regarding the presence of SNPs in 88% of the subjects in this study, it is likely a relationship exists between the SNPs of the GPR54 gene and familial precocious puberty. Further research is needed to investigate this possibility, and potential functional effects of these polymorphisms.
青春期可以被认为是一个成熟过程的终点，这个过程是由产前和产后发育过程中基因和环境因素的动态相互作用所定义的。Kisspeptin/G 蛋白偶联受体-54 是 GnRH 神经元的重要守门员和调节剂，也是启动青春期的关键因素。GPR54 基因的功能丧失和获得突变分别与促性腺激素释放激素缺乏性性腺功能减退症和性早熟有关。本研究旨在评估家族性性早熟中 GPR54 的变异情况。
从 25 例家族性性早熟患者的外周血中提取基因组 DNA。通过聚合酶链反应 (PCR) 扩增 GPR54 基因的编码外显子 1-5，然后纯化和测序 PCR 产物。使用 Sequencher 序列比对软件将 DNA 序列与人类 GenBank GPR54 序列进行比较。
我们在 GPR54 中检测到三个不同的单核苷酸多态性 (SNP)：rs10407968(24A>T)在 13 例受试者中(52%)；rs3050132(1091T>A)在 16 例受试者中(64%)，以及在 1 例受试者中发现一个新的多态性(492C>G)(4%)，而 3 例受试者(12%)没有 SNP。在 GPR54 基因中未发现突变。
鉴于本研究中 88%的受试者存在 SNP，GPR54 基因的 SNP 与家族性性早熟之间可能存在关系。需要进一步研究来探讨这种可能性，以及这些多态性的潜在功能影响。
