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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。
Follicle stimulating hormone receptor (FSHR) is a G protein-coupled receptor protein encoded by the FSHR gene, which consists of three parts: the extracellular domain, the transmembrane region and the intracellular region. Extracellular region and FSH-specific combination of FSH / FSHR system, play an important role in human reproduction. FSHR gene mutation genes into active mutation and inactivation mutations 2, inactivation mutations may lead to primary or secondary amenorrhea, gonadotropin dysfunction, premature ovarian failure and spermatogenic dysfunction and other reproductive diseases, active mutations Mainly associated with ovarian hyperstimulation syndrome (OHSS). The incidence of point mutations in the FSHR gene is very small, mostly reported only once, and most FSHR mutations are single nucleotide polymorphisms. Ovarian and testicular normal development and function are dependent on the complete FSHR-mediated FSHR mutation on the reproductive phenotype differences.