4/16/2023 0 Comments Exome sequence analysis![]() ![]() A previous study 2 reported that the occurrence of T2DM is related to genetic susceptibility, with a certain degree of familial aggregation. 1 Among these diabetes mellitus patients, T2DM accounts for more than 90%. According to the data of International Diabetes Federation in 2017, there are approximately 451 million diabetes mellitus patients in the whole world, with the potential to achieve 693 million by the year 2045. In recent years, with aging of the population and improvement of living standards, the incidence of diabetes is rising year by year worldwide. The main clinical manifestations of T2DM are glycolipid metabolism associated disorders. Type 2 diabetes mellitus (T2DM), as a polygenic genetic disease, is mainly characterized by β cell decline in the pancreas and insulin resistance, usually resulting from a combination of genetic and environmental factors. Keywords: type 2 diabetes, gene mutation, whole exome sequencing, PNLIPRP1, CAMKK2 These two mutations might promote T2DM occurrence through reducing sensitivity of peripheral tissue to insulin and reducing insulin secretion. An rs2305205 mutation of PNLIPRP1 gene and an rs778701848 mutation of CAMKK2 gene may be associated with the pathogenesis of T2DM in this family.Ĭonclusion: Exons of these diabetic patients demonstrated an rs2305205 mutation in PNLIPRP1 gene and an rs778701848 mutation in CAMKK2 gene. ![]() ![]() A total of 22 significant SNPs and Indel mutation sites located on 19 genes were obtained, including ZCCHC3, SYN2, RPL14, SRRD, AMD1, CAMKK2, ZNF787, RNF157, NPIPB15, ALG3, KIAA0040, MAST2, ESRRA, C8orf58, PNLIPRP1, DACH1, MACC1, CAPN9 and DMKN. A total of 130,693 SNPs and 15,928 Indels were found in DNA samples. Clean reads of each sample demonstrated high Q20 and Q30 (> 80%), indicating good sequencing quality of sequencing data. All DNA samples (23 kb) met quality requirements of library construction. Results: Six out of seven members of the family were diagnosed with diabetes. 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. The whole blood genomic DNA of seven members of the family was extracted and sent for whole exome sequencing. Materials and Methods: We recruited a Chinese family with 3-generation history of diabetes. This study aimed to investigate the possible pathogenic gene mutation sites of T2DM patients using whole exome sequencing. 295 Xichang Road, Wuhua District, Kunming, 650032, People’s Republic of Chinaīackground: Type 2 diabetes mellitus (T2DM) is characterized by β cell decline in the pancreas and insulin resistance. ![]() *These authors contributed equally to this workĭepartment of Diabetes, The First Affiliated Hospital of Kunming Medical University, No. Xiaowei Zhou, 1, * Weichang Guo, 2, * Hejia Yin, 1 Jie Chen, 1 Liju Ma, 3 Qiuping Yang, 4 Yan Zhao, 1 Shaoyou Li, 5 Weijun Liu, 1 Huifang Li 1ġDepartment of Diabetes, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China 2Department of Physical Education, Kunming Medical University, Kunming, People’s Republic of China 3Department of Clinical Laboratory, First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China 4Department of Geriatrics, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China 5Department of NHC Key Laboratory of Drug Addiction Medicine, The First Affiliated Hospital of Kunming Medical University, Kunming, People’s Republic of China ![]()
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