CYP11A编码胆固醇侧链裂解酶P450scc是固醇类激素合成的第一步关键限速酶,几乎存在于所有动植物中。CYP11A受激素水平和自身启动子区域某些特定结构调控,其启动子区域的基因多态性可能与转录活性和基因表达相关。多囊卵巢综合征(PCOS)是一种很常见的女性生殖内分泌疾病,高雄激素是PCOS的主要特征。CYP11A基因是PCOS的一个重要遗传易感位点,在PCOS发病机制中其多态性表现的作用仍有争论,并未完全阐明,值得进一步深入研究。
CYP11A encoding cholesterol side-chain-cleavage-enzyme P450scc is the key to the synthesis of steroid hormones initial and rate-limiting enzyme,which exits in almost all animals and plants.CYP11A is regulated by hormone levels and self-regulation of the promoter region of certain structures.The certain part of a pentanucleotide repeat(TTTTA)n in its promoter may be related to transcriptional activity and gene expression.Polycystic ovary syndrome(PCOS) is a very common female reproductive endocrine disease,hyperandrogenism is the main feature of PCOS.CYP11A is one of the important genetic susceptibilities.Its role in the pathogenesis of PCOS is still controversial,whicn has not been fully clarified and is worth further study.