卵巢功能早衰相关基因研究进展 - 海南医学.pdf

doi:10.3969/j.issn.1003-6350.2015.14.0760 ·综 述· 卵巢功能早衰相关基因研究进展 万 琼，叶 红 (三峡大学第一临床医学院，湖北 宜昌 443000) 【摘要】 卵巢功能早衰(Premature ovarian failure ，POF)是女性不孕常见病因之一，其发病率有逐年上升的 趋势。POF 的病因复杂，主要包括遗传学因素、免疫学因素、医源性因素及代谢、环境、感染等因素，但部分特发 性卵巢功能早衰患者病因及机制尚不完全明确。近年，关于POF 发病机制的分子生物水平研究较多，但无论是 基因单核苷酸多态性的分析及家族遗传学的研究还是进一步蛋白功能学的研究，都显示性染色体上的FMR1、 BMP15及常染色体上的FSHR、GDF9、FOXL2等基因突变可能与卵巢早衰发生相关。本文将从遗传学角度对 POF 病因学进行综述。 【关键词】 卵巢功能早衰；遗传；基因突变；单核苷酸多态 【中图分类号】R711.75 【文献标识码】A 【文章编号】 1003—6350（2015 ）14—2109—04 Advanceofgenesinvolvedinprematureovarianfailure. WANQiong,YEHong.TheFirstClinicalMedicalCollege ofChinaThreeGorgesUniversity,Yichang443000,Hubei,CHINA 【Abstract】 Premature ovarian failure (POF) is one of the common causes of female infertility. Its incidence has a tendency to rise year by year. The etiology of POF is complicated, which includes genetic factors, autoimmune diseases, iatrogenic factors, metabolic disease, environment and infection. When it comes to the idiopathic premature ovarian failure, the etiology and mechanism is not fully clear. In recent years, there is much research on molecular bio- logical level to the pathogenesis of POF. Single nucleotide polymorphism analysis, family genetics research, and fur- ther research of protein function study all reveal that POF is mostly associated with gene mutation on sex chromo- somes or euchromosome, such as FMR1,BMP15,FSHR,GDF9,FOXL2gene. Here we will summarize the POF etiolo- gy from genetic view. 【Keywords】 Premature ovarian failure; Genetic; Gene mutation; Single nucleotide