Molecular genetics & genomic medicine
Analysis of Whole Exome Sequencing Results of Type 2 Diabetic Pedigree
Par Chen J, Li JL, Yin HJ et 2 autres.
Contenu en anglais
Résumé
Background
Type 2 diabetes mellitus (T2DM) exhibits strong familial aggregation. This study aimed to identify potential pathogenic genes and mutation sites in a Chinese pedigree with a high prevalence of T2DM.
Methods
A multigenerational family with 20 members, including 5 diagnosed with T2DM, was enrolled. The proband was a second-generation female with a 10-year disease history. Peripheral blood was collected, genomic DNA was extracted from blood cells, and whole exome sequencing was performed. Bioinformatic analysis, including KEGG pathway mapping, was used to screen candidate pathogenic variants.