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Title: Identification of copy number variation of CAPN10 in Thais with type 2 diabetes by multiplex PCR and denaturing high performance liquid chromatography (DHPLC)
Authors: Nattachet Plengvidhya
Kanjana Chanprasert
Watip Tangjittipokin
Wanna Thongnoppakhun
Pa thai Yenchitsomanus
Faculty of Medicine, Siriraj Hospital, Mahidol University
Faculty of Medicine, Thammasat University
Keywords: Biochemistry, Genetics and Molecular Biology
Issue Date: 15-Sep-2012
Citation: Gene. Vol.506, No.2 (2012), 383-386
Abstract: Copy number variations (CNVs) have been shown to be associated with several diseases. They can cause deviation of genotypes from Hardy-Weinberg Equilibrium (HWE). Genetic case-control association studies in Thais revealed that genotype distribution of . CAPN10 Indel19 was deviated from HWE after correction of genotyping error. Therefore, we aim to identify CNVs within . CAPN10 Indel19 region. The semi-quantitative denaturating high performance liquid chromatography (DHPLC) method was used to detect CNVs in the region of . CAPN10 Indel19 marker in cohort of 305 patients with type 2 diabetes and 250 control subjects without diabetes. CNVs in the region of . CAPN10 Indel19 was successfully detected by DHPLC. After correction of genotype calling based on the status of identified CNVs, . CAPN10 Indel19 genotypes were well-fitted for HWE (. p > . 0.05). However, we did not find association between CNV genotypes and risk of type 2 diabetes in our population.CNVs in . CAPN10 have been identified in Thais. Thes e CNVs lead to deviation from HWE of . CAPN10 Indel19 genotypes. After excluding identified CNVs from the analysis, . CAPN10 Indel19 was associated with type 2 diabetes. The information obtained from our study would be helpful for genotyping accuracies of SNPs residing in the CNVs region. © 2012 Elsevier B.V.
ISSN: 18790038
Appears in Collections:Scopus 2011-2015

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