多囊卵巢综合征患者不孕的遗传学研究

多囊卵巢综合征是女性常见病和多发病,其发生主要受遗传控制,多数证实本病是常染色体显性遗传,一些基因位点已被提出,包括CYP11A、胰岛素基因以及胰岛素受体附近区域,研究较为深入的是胰岛素受体附近区域,已被两项独立研究证实,但是位于染色体19P13.3位点的相关基因仍等待去被证实。相关的研究已提供了一些潜在的导致多囊卵巢综合征的突变基因,包括Calpain10、IRS1、IRS2以及SHBG。这里从家系遗传学、细胞、分子遗传学方面阐明了多囊卵巢综合征的发病机理,将为该病大规模的基因系统筛查、新基因的发现及基因治疗提供了重要的理论依据和有力的工具。

Genetic research on infertility caused by polycystic ovary syndrome

Polycystic ovary syndrome(PCOS) is a common and frequently encountered disease of women. Its development is primarily controlled by inheritance. Most cases of this disease are proved to be autosomal dominant inheritance. Identified gene locuses include CYP11A, insulin gene and insulin receptor neibourhood, which has been proved by two independent studies.However, the associated genes which lie in insulin 19P13.3 site wait to be proved. The related studies have provided underlying mutated genes which lead to PCOS including Calpain10, IRS-1, IRS-2 and SHBG. This article explored pathogenesis of PCOS from familial genestics, cytogenetics and molecular genestics. It will provide important theoretical basis for large scale genic systematic screeing, new gene's identification and gene therapy for this disease.