Whole Exome Sequencing Study in a Family with Type 2 Diabetes Mellitus.

ABSTRACT:

Background

Type 2 diabetes mellitus (T2DM) is characterized by β cell decline in the pancreas and insulin resistance. This study aimed to investigate the possible pathogenic gene mutation sites of T2DM patients using whole exome sequencing.

Materials and methods

We recruited a Chinese family with 3-generation history of diabetes. The whole blood genomic DNA of seven members of the family was extracted and sent for whole exome sequencing. Biological information was analyzed with in silico prediction methods, including significance analysis of single nucleotide polymorphism (SNP)/Indel site, and analysis of specific SNP/Indel proteins and their potential mechanisms.

Results

Six out of seven members of the family were diagnosed with diabetes. All DNA samples (23 kb) met

SUBMITTER: Zhou X 

PROVIDER: S-EPMC8605871 | biostudies-literature | 2021

REPOSITORIES: biostudies-literature