Hyon Capucine
AP-HP, GHUEP, Hôpital Armand Trousseau, Département de Génétique Médicale, Paris, France - INSERM, UMRS 933, Hôpital Armand Trousseau, Paris, France - Sorbonne Universités, UPMC Univ Paris 06, Paris, France.
Biol Aujourdhui. 2017;211(3):199-205. doi: 10.1051/jbio/2017025. Epub 2018 Feb 7.
Premature ovarian insufficiency (POI) defined by the cessation of ovarian function before the age of 40 years and the increase of gonadotropins (> 25 UI/l) occurs in approximately 1-5% of women. Different mechanisms are responsible for POI: chemotherapy, radiotherapy, environmental factors or genetic causes but most frequently no cause is identified. In order to determine the etiology of POI, cytogenetic analyses such as karyotype are performed. The karyotype allows to identify abnormalities of the number of chromosomes as well as abnormalities of the structure such as translocations, deletions or insertions of a size greater than 5-10 Mb… Turner syndrome is the most frequent genetic cause of POI and deletions of the long arm of the X chromosome are other causes of POI identified by the karyotype. However, the resolution of the karyotype is low and other cytogenetic techniques were developed such as all genome microarray analysis. This technique includes CGH-array and SNP-array and allows to identify gain or loss of chromosomal material as small as 10 kb but not the balanced structural rearrangements. Different studies using microarray analysis in cohorts of patients presenting with POI identify candidate genes responsible for POI. Furthermore, they allowed to identify a recurrent microdeletion, which includes the CPEB1 gene, located in 15q25.2 in about 1.5% of patients with POI.
卵巢早衰（POI）定义为40岁之前卵巢功能停止且促性腺激素升高（>25 UI/l），约1%-5%的女性会出现这种情况。POI由不同机制引起：化疗、放疗、环境因素或遗传原因，但最常见的是找不到病因。为了确定POI的病因，会进行细胞遗传学分析，如核型分析。核型分析可以识别染色体数量异常以及结构异常，如大于5-10 Mb的易位、缺失或插入……特纳综合征是POI最常见的遗传原因，X染色体长臂缺失是核型分析确定的POI的其他原因。然而，核型分析的分辨率较低，因此开发了其他细胞遗传学技术，如全基因组微阵列分析。这项技术包括比较基因组杂交阵列（CGH-array）和单核苷酸多态性阵列（SNP-array），可以识别小至10 kb的染色体物质增减，但无法识别平衡的结构重排。在POI患者队列中使用微阵列分析的不同研究确定了导致POI的候选基因。此外，这些研究还发现了一种常见的微缺失，约1.5%的POI患者中存在这种微缺失，它包含位于15q25.2的CPEB1基因。
