Variational analysis of the Ryanodine Receptor 2 gene in cases of sudden unexpected death in the young and infants admitted to Pretoria Medico-Legal Laboratory

Abstract

Sudden death can be defined as death from natural causes occurring instantaneous or within a few minutes after its cause (Merriam-Webster, 2019). It is globally considered as one of the leading causes of mortality and may also be referred to as sudden unexpected death (SUD) (Tester et al., 2012). This study was an investigation on this gene in the South African population using a number of molecular techniques such as HRM real time PCR, DNA sequencing analysis and variation analysis. Results included several DNA variations found in exons 2, 5, 7, 10, 12, 15, 16, 23 and 28. Most DNA variations were single nucleotide variations (SNVs), however some DNA variations were insertions. Variations found in exons 2, 5, 7, 10, 12, 23 and 28 were in the introns whereas variations found in exons 15, 16 and 28 were in the exons. Exon 15 particularly presented as a ‘hot-spot’ for several highly pathogenic DNA variations. Exon 16 also had one DNA variation in three cases that were found to be pathogenic.