减数分裂基因致原发性卵巢功能不全的研究进展

Progress in research on meiotic genes underlying primary ovarian insuffiency

原发性卵巢功能不全（primary ovarian insuffiency，POD指女性在40岁之前即出现闭经伴血清高促性腺激素及低雌激素水平，是导致女性不孕不育的重要原因之一。其病因复杂，目前普遍认为遗传因素在其中扮演重要的角色。近年来，随着基因组测序技术的飞速发展，越来越多的研究发现减数分裂相关基因的异常与POI的发生有关。减数分裂过程中同源染色体配对、联会、重组、分离等任一环节的基因突变均有可能导致性腺发育异常，其特有的分离组合交换定律也是个体间遗传多样性及疾病异质性的基础。阐明POI的遗传学发病机制不仅能深入理解配子发生、生殖功能及不孕不育的分子基础，同时也能为POI患者提供准确的遗传咨询和生育指导。

Primary ovarian insuffiency （POI）, which accounts for female infertility, is characterized by amenorrhea before the age of 40 and high serum level of follicular stimulating hormone （〉40 U/L） at two measurements taken at least one month apart. The disorder is believed to have a strong genetic component. A large number of candidate genes have been proposed, though few of them were extensively studied. With the rapid evolvement of genome sequencing technology, recent research raised the possibility that the genes involved in essential steps of meiosis such as chromosome synapsis and recombination play an important role in the pathogenesis of POI. Clarifying the genetic pathogenesis of POI not only can enhance understanding of the molecular mechanism of reproductive functions and infertility, but also provide accurate information for genetic counseling for such patients.