Article
[Application of single sperm sequencing for preimplantation genetic testing of male patient with achondroplasia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Sept 2020
Lyu Yuan, Li Chuang, Zhou Feifei, Li-Ling Jesse, Tan Jichun, Liu Caixia
Abstract excerpt
OBJECTIVE: To assess the value of single sperm sequencing in preimplantation genetic diagnosis. METHODS: A male patient with achondroplasia due to a de novo FGFR3 variant was subjected to single sperm isolation and sequencing. Twenty single sperm samples were isolated by mechanical immobilization, and their whole genome was amplified. PCR primers were designed for the variant site and 25 flanking single...
Topics
- Achondroplasia
- Female
- Genetic Testing
- Haplotypes
- High-Throughput Nucleotide Sequencing
- Humans
- Male
- Polymorphism, Single Nucleotide
- Pregnancy
- Preimplantation Diagnosis
- Receptor, Fibroblast Growth Factor, Type 3
- Single-Cell Analysis
- Spermatozoa