Fassnacht W, Mempel A, Strowitzki T, Vogt P H
Department of Gynecol. Endocrinology and Reproductive Medicine, University Women Hospital, Heidelberg, Germany.
Curr Med Chem. 2006;13(12):1397-410. doi: 10.2174/092986706776872943.
The Premature Ovarian Failure (POF) syndrome is a very heterogeneous clinical disorder due probably to the complex genetic networks controlling human folliculogenesis. Clinical subgroups of POF patients whose aetiology of ovarian failure is based on the same genetic factors are therefore difficult to establish. Some experimental evidence suggests that these genes might be clustered on the female sex chromosome in the POF1 and POF2 loci. This review is aimed to present an overview of the actual structural changes of the X chromosome causing POF, and to present a number of X and autosomal female fertility genes which are probably key genes in human folliculogenesis and are therefore prominent POF candidate genes. Towards the molecular analysis of their functional contribution to the genetic aetiology of POF in the clinic, an interdisciplinary scheme for their diagnostic analysis is presented in a pilot study focussed on chromosome analyses and the expression analysis of some major POF candidate genes (DAZL, DBX, FOXL2, INHalpha, GDF9, USP9X) in the leukocytes of 101 POF patients. It starts with a comprehensive and significantly improved clinical diagnostic program for this large and heterogeneous patient group.
卵巢早衰（POF）综合征是一种非常异质性的临床疾病，可能归因于控制人类卵泡发生的复杂基因网络。因此，很难基于相同遗传因素建立卵巢早衰病因的临床亚组。一些实验证据表明，这些基因可能聚集在POF1和POF2位点的女性性染色体上。本综述旨在概述导致POF的X染色体的实际结构变化，并介绍一些X染色体和常染色体上的女性生育基因，这些基因可能是人类卵泡发生中的关键基因，因此是突出的POF候选基因。为了在临床上对它们对POF遗传病因的功能贡献进行分子分析，在一项试点研究中提出了一种跨学科的诊断分析方案，该研究集中于对101例POF患者白细胞中的染色体分析和一些主要POF候选基因（DAZL、DBX、FOXL2、INHα、GDF9、USP9X）的表达分析。它始于针对这个庞大且异质性患者群体的全面且显著改进的临床诊断程序。
