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目的分析特发性卵巢早衰(premature ovarian failure,POF)发病的机制,初步确定引起成熟卵巢功能衰退的基因所在的染色体部位。方法选取7例健康妇女的外周血基因组DNA建立一个黄色人种妇女的正常基因库,严格筛选5例特发性POF患者进行高分辨率比较基因组杂交检测。结果所有特发性POF患者出现21p11.2拷贝数扩增,2例患者出现Xp22.33拷贝数的缺失。结论 21p11.2扩增引起的相关基因功能改变也许是导致成熟卵巢过早衰退的机制之一。
Objective To analyze the pathogenesis of idiopathic premature ovarian failure (POF) and to identify the chromosomal location of the gene responsible for the decline of mature ovarian function. Methods Genomic DNA from peripheral blood of seven healthy women was selected to establish a normal gene bank of yellow human women. Five patients with idiopathic POF were screened for high resolution comparative genomic hybridization. Results All patients with idiopathic POF showed 21p11.2 copy number amplification, and 2 patients had deletion of Xp22.33 copy number. Conclusion The changes of function of related genes induced by 21p11.2 amplification may be one of the mechanisms leading to premature ovarian failure.