Haematology and Cell Biology
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Browsing Haematology and Cell Biology by Subject "AmpliSeq™"
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Item Open Access Screening black South African females with Type 2 Diabetes Mellitus for mutations in the peroxisome proliferator-activated receptor gamma gene(University of the Free State, 2016-01) Nienaber, Elzette; Marx, G. M.; Goedhals, D.English: Type 2 Diabetes Mellitus (T2DM) is a chronic metabolic disorder which is caused by a combination of an inadequate response to insulin secretion and a resistance to insulin action. The peroxisome proliferator-activated receptor gamma (PPARG) gene has been established as one of the major genes to have an impact on the risk of T2DM. The Pro12Ala polymorphism is one of the most common mutations found within PPARG and has been described in many different populations. However, it has not yet been established whether the Pro12Ala variant has a significant association with T2DM in the black, female South African population. The aim of this study was to screen for novel T2DM genetic risk factors in the PPARG gene and to determine the presence of previously identified T2DM genetic risk factors in black South-African women with T2DM. Quantitative PCR was performed on 184 black female South African participants that consisted of 93 patients diagnosed with T2DM and 91 control participants. Quantitative PCR was used to screen for the presence of the Pro12Ala polymorphism in the PPARG gene. Next Generation Sequencing (NGS) was performed on eight patients and eight control samples which were individually matched according to age and body mass index (BMI). NGS was used to identify novel polymorphisms which might be associated with T2DM and to detect the prevalence of previously described variants within the PPARG gene. The qPCR genotyping results showed that of the 184 participants, 183 had the Pro/Pro genotype and only one had the heterozygous Pro/Ala genotype. The Ala/Ala genotype was not detected in this study population. Although the study sample is only a small representation of the total population, it can be derived from the results that it is likely that the Ala/Ala genotype is rare in the population. Additionally, NGS results identified two variants within three individuals of the selected sample. The one variant (rs41516544) did not show any clinical relevance and is probably just a rare population variant. The other variant (rs3856806) is a well-described polymorphism and has been associated with having a protective effect against T2DM and was present in a control participant. This variant might be significant in its association to T2DM in the black South African population but will have to be further investigated in future studies.