| 卵巢储备功能不全患者 FMR1基因CGG重复数的研究 |
| |
| 引用本文： | 何文斌,汤卫琳,廖怡,李汶,龚斐,卢光琇,林戈,杜娟,谭跃球. 卵巢储备功能不全患者 FMR1基因CGG重复数的研究[J]. 中华医学遗传学杂志, 2021, 0(4): 343-346 |
| |
| 作者姓名： | 何文斌 汤卫琳 廖怡 李汶 龚斐 卢光琇 林戈 杜娟 谭跃球 |
| |
| 作者单位： | 中南大学基础医学院生殖与干细胞工程研究所;中信湘雅生殖与遗传专科医院;湖南省生殖与遗传临床医学研究中心 |
| |
| 基金项目： | 湖南省科技重大专项(2017SK1030);中信湘雅生殖与遗传专科医院科研基金(YNXM-201912;YNXM-201802)。 |
| |
| 摘 要： | 目的:探讨 FMR1基因(CGG)n重复数与卵巢储备功能不全(diminished ovarian reserve，DOR)发病的相关性，为患者提供遗传咨询和生育指导。 方法:采集214例DOR患者的外周血样，提取DNA。用PCR扩增结合毛细管电泳测定患者及部分家系成员 FMR1基因的...
|
| 关 键 词： | FMR1基因 卵巢储备功能不全 促卵泡激素 前突变 |
Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve |
| |
| He Wenbin,Tang Weilin,Liao Yi,Li Wen,Gong Fei,Lu Guangxiu,Lin Ge,Du Juan,Tan Yueqiu. Analysis of FMR1 gene CGG repeats among patients with diminished ovarian reserve[J]. Chinese journal of medical genetics, 2021, 0(4): 343-346 |
| |
| Authors: | He Wenbin Tang Weilin Liao Yi Li Wen Gong Fei Lu Guangxiu Lin Ge Du Juan Tan Yueqiu |
| |
| Affiliation: | (Institute of Reproductive and Stem Cell Engineering,School of Basic Medical Science,Central South University,Changsha,Hunan 410078,China;Reproductive and Genetic Hospital of CITIC-Xiangya,Changsha,Hunan 410078,China;Clinical Research Center for Reproduction and Genetics of Hunan Province,Changsha,Hunan 410078,China) |
| |
| Abstract: | Objective To explore the correlation between fragile X mental retardation gene-1(FMR1)gene CGG repeats with diminished ovarian reserve(DOR).Methods For 214 females diagnosed with DOR,DNA was extracted from peripheral blood samples.FMR1 gene CGG repeats were determined by PCR and capillary electrophoresis.Results Three DOR patients were found to carry FMR1 premutations,and one patient was found to carry gray zone FMR1 repeats.After genetic counseling,one patient and the sister of another patient,both carrying FMR1 permutations,conceived naturally.Prenatal diagnosis showed that both fetuses have carried FMR1 permutations.Conclusion FMR1 gene permutation may be associated with DOR.Determination of FMR1 gene CGG repeats in DOR patients can provide a basis for genetic counseling and guidance for reproduction. |
| |
| Keywords: | FMR1 gene Diminished ovarian reserve Follicle-stimulating hormone Premutation |
| 本文献已被 维普 等数据库收录！ |
|
