CAJ | 학술논문

人类青春期的启动是由再度出现的下丘脑-垂体-性腺轴促性腺激素释放激素的释放幅度和频率明显增加所触发.一系列研究发现许多基因调控青春期启动,包括KISS1和GPR54基因、雌激素受体基因、能量平衡相关基因、LIN28B基因以及MKRN3基因等,这些基因的突变和单核苷酸多态性与青春发育提前相关.该文就这些基因的遗传改变与青春发育提前的关系作一综述.
인류청춘기적계동시유재도출현적하구뇌-수체-성선축촉성선격소석방격소적석방폭도화빈솔명현증가소촉발.일계렬연구발현허다기인조공청춘기계동,포괄KISS1화GPR54기인、자격소수체기인、능량평형상관기인、LIN28B기인이급MKRN3기인등,저사기인적돌변화단핵감산다태성여청춘발육제전상관.해문취저사기인적유전개변여청춘발육제전적관계작일종술.
Puberty onset is triggered by re-emergence of the hypothalamic-pituitary-gonadal axis (HPGA),which is characterized by the significantly increasing amplitude and frequency of gonadotropin-releasing hormone (GnRH) secretion in human being.A series of studies found that many genes control puberty onset,including KISS1 and GPR54 gene,estrogen receptor (ESR) gene,energy balance-related genes,LIN28B gene,MKRN3 gene and so on.Studies have been confirmed that the mutation and single nucleotide polymorphisms (SNP) of the genes above are associated with early puberty.In this paper,the relationship between genetic alterations of these genes and early puberty are summarized as follows.-