학술논문
Oocyte maturation arrest produced by TUBB8 mutations: impact of genetic disorders in infertility treatment.
Document Type
Article
Author
Source
Subject
*OVUM
*GENETIC disorders
*INDUCED ovulation
*INFERTILITY
*HUMAN chromosome abnormality diagnosis
*OOGENESIS
*MOLECULAR diagnosis
*
*
*
*
*
*
Language
ISSN
0951-3590
Abstract
卵母细胞成熟缺陷是不孕症治疗中的一大难题, 其病因可能与内分泌因素、卵巢刺激方案、卵母细胞固有缺陷或胚胎学实验室操作有关。我们报告了三例治疗原发性不孕症的墨西哥女性在卵巢刺激和卵母细胞获取后卵母细胞未成熟的病例, 通过外显子组测序发现了TUBB8-卵母细胞成熟缺陷的基因诊断。两对夫妇在确定了遗传学病因后, 通过捐献的卵子实现了妊娠。我们的结果扩大了TUBB8-障碍在非亚裔患者中的作用。单基因来源的卵母细胞成熟缺陷是越来越多的疾病, 内分泌学家和生殖医学专家应该意识到这一点, 以提供遗传学参考, 从而为患者正确及时地诊断。 The Chinese abstracts are translated by Prof. Dr. Xiangyan Ruan and her team: Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China. [ABSTRACT FROM AUTHOR]