Article
Novel mutations in LHCGR (luteinizing hormone/choriogonadotropin receptor): expanding the spectrum of mutations responsible for human empty follicle syndrome.
Journal of assisted reproduction and genetics - 1 Nov 2020
Zhang Zhihua, Wu Ling, Diao Feiyang, Chen Biaobang, Fu Jing, Mao Xiaoyan, Yan Zheng, Li Bin, Mu Jian, Zhou Zhou, Wang Wenjing, Zhao Lin, Dong Jie, Zeng Yang, Du Jing, Kuang Yanping, Sun Xiaoxi, He Lin, Sang Qing, Wang Lei
Abstract excerpt
PURPOSE: To screen novel mutations in LHCGR responsible for empty follicle syndrome and explore the pathological mechanism of mutations. METHODS: Four affected individuals diagnosed with infertility-associated anovulation or oligo-ovulation from three independent families were recruited. Sanger sequencing was used to identify the LHCGR mutations in affected individuals. Western blot was performed to evaluate the...
Topics
- Female
- HeLa Cells
- Humans
- Infertility, Female
- Mutation
- Ovarian Follicle
- Polycystic Ovary Syndrome
- Receptors, LH