Related Experiment Video
Updated: Oct 4, 2026
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
[Identification of three common G6PD gene mutations in Yi minority in Yunnan province]
1Department of Medical Genetics, SUN Yat-sen University of Medical Sciences, Guangzhou 510089.
Objective:
To identify three common G6PD gene mutations in Yi minority in Yunnan province.
Methods:
G6PD gene mutation of 28 samples from G6PD deficient patients was detected by using amplification refractory mutation system(ARMS). Samples were collected from Yi minority in Yunnan province.
Results:
In 28 cases, 22 were identified to be three known mutations, including 12 of 1388(G-->A), 9 of 1376(G-->T) and 1 of 95(A-->G). The remaining 6 cases were undefined.
Conclusions:
This is the first report of G6PD gene G1376T and A95G mutations in Yi minority. The three common mutations account for 78.6% of the 28 cases.
Related Concept Videos
01:05Single Nucleotide Polymorphisms-SNPs
02:59Animal Mitochondrial Genetics