卵泡刺激素受体基因的点突变和单核苷酸多态性

卵泡刺激素受体(FSHR)是由FSHR基因编码的G蛋白耦联受体蛋白,由胞外区、跨膜区及胞内区3部分构成。胞外区与FSH特异性结合组成FSH/FSHR系统,在人类生殖过程中发挥着重要作用。FSHR基因上突变基因分为活性突变和失活突变2种,失活突变可能导致原发或继发性闭经、高促性腺激素性功能障碍、卵巢早衰及生精功能障碍等生殖疾病,活性突变主要与卵巢过度刺激综合征(OHSS)关系密切。FSHR基因的点突变出现概率非常小,大部分仅有1次报道,而大多数FSHR基因突变为单核苷酸多态性。卵巢和睾丸的正常发育及发挥功能均依赖于完整的FSHR介导,FSHR突变对两性生殖表型的影响存在着差异。

Research Progress on Mutations and Single Nucleotide Polymorphisms of Follicle Stimulating Hormone Receptor Gene

Follicle stimulating hormone receptor(FSHR) is a G-protein coupled receptor protein encoded by the FSHR gene,which is constituted by 3 parts: extracellular region,transmembrane region and intracellular region.FSH / FSHR system which consists of FSH and the extracellular domain of FSHR plays an important role in the human reproductive process.The FSHR gene mutations are divided into active and inactive mutations.Inactive mutations may lead to reproductive diseases such as primary or secondary amenorrhea,the gonadotropin sexual dysfunction,premature ovarian failure and spermatogenesis impairment and active mutations are related to ovarian hyperstimulation syndrome(OHSS).The FSHR gene point mutations are rare,which have been reported only once and most of them exist as single nucleotide polymorphisms(SNP).The normal development and function of the ovaries and testes are dependent on the FSHR,and FSHR gene mutations have different effects on reproductive phenotype of male and female.