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卵巢早衰(POF)是一组X连锁的基因型疾病,X染色体负载维持正常卵巢功能的区段和位点,X染色体的数量和结构异常,如单体、缺失、易位均可导致卵巢早衰;某些基因(如人骨形成蛋白15基因、锌指蛋白基因、X染色体失活特异转录子基因、人黑色素透明基因、X-脯氨酰氨基肽酶2基因、家族性智力低下1基因、家族性智力低下2基因)可能与卵巢早衰发生有关。对其发病机制的阐明有助预测可能发病人群,加深对卵巢功能维持机制的了解。
Premature ovarian failure (POF) is a group of X-linked genotypes disease, X chromosome load maintenance of normal ovarian function of the sections and sites, X chromosome number and structural abnormalities, such as monomer, deletion, translocation can lead to premature ovarian failure ; Some genes (such as human bone morphogenetic protein 15 gene, zinc finger protein gene, X chromosome inactivation specific transcriptional gene, human melanin translocation gene, X-prolyl aminopeptidase 2 gene, familial mental retardation 1 gene, family Sexual mental retardation 2 gene) may be related to the occurrence of premature ovarian failure. The elucidation of its pathogenesis can help predict the likely population and deepen the understanding of ovarian function maintenance mechanism.