Article
[Results of carrier screening and prenatal diagnosis for FMR1 gene in 819 cases].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Oct 2020
Li Jiao, Du Juan, Yang Qi, Xu Juanjuan, Li Meng, Fu Huayu, Li Minqing
Abstract excerpt
OBJECTIVE: To determine the carrier rate of Fragile X mental retardation 1 gene (FMR1) mutants in women with a history of adverse pregnancy or childbirth, and to provide prenatal diagnosis for the carriers. METHODS: Peripheral blood samples were collected from women with a history of adverse pregnancy or childbirth, and the FMR1 gene cytosine-guanine-guanine repeat number (CGG)n was determined by triple-repeat...
Topics
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Testing
- Humans
- Male
- Mutation
- Pregnancy
- Prenatal Diagnosis