Project's information
Project's title | Research on genetic modification in Vietnamese patients with Androgen insensitivity syndrome by using Next-Generation sequencing method |
Project’s code | GUST.STS.ĐT2020-SH01 |
Research hosting institution | Graduate University of Science and Technology |
Project leader’s name | PhD. Nguyen Thu Hien |
Project duration | 01/06/2020 - 30/06/2022 |
Project’s budget | 300 million VND |
Classify | Excellent |
Goal and objectives of the project | - Determining the cause of the disease by molecular genetic analysis in some Vietnamese patients with androgen insensitivity syndrome. |
Main results | Theoretical results: This project perfomred whole exome sequencing for eight patients with disorders of sex development. After filtering, We have detected 08 pathogenic mutations in 8 patients. in which there are 04 new mutations and 04 mutations have been announced, as follows: |
Novelty and actuality and scientific meaningfulness of the results | This project identified 04 new mutations: c.1834T>A (p.Cys612Ser), c.2122C>G (p.Leu708Val), c.2630T>G ( p.Phe877Cys), c.2641C>A (p.Leu881Met) in AIS 1, AIS 2, AIS 3, AIS 5, respectively. |
Products of the project | Products of science and technology |
Images of project | |