Detection of Fabry disease - Essay Example

Detection of Fabry disease Principle of multiplex-PCR technology: Multiplex Polymerase chain reaction (Multiplex-PCR) is a PCR technique in which more than one target sequence can be amplified simultaneously by incorporating more than one pair of primers in the same reaction. This process amplifies genomic DNA using multiple primer pairs where each primer pair targets a single locus. When multiple genes are targeted at the same time, much information can be obtained from a single test run. This is a modification of PCR technology which uses multiple primers and temperature-mediated DNA polymerase in a thermal cycler. This technique can amplify two or more separate DNA regions. Multiplex PCR can be the end point of an analyses or a pre-test leading to further tests such as sequencing or hybridization (Edwards and Gibbs, 1994). Application of Multiplex-PCR: Multiplex DNA amplification was first reported in 1988 by Chamberlain et al. as a suitable method to identify dystrophy in humans. Thereafter, it has been widely applied in humans and animals (typing of transgenic animals, linkage analysis of farm animals, pathogen detection, food analysis, sex determination, mutation detection, amplification of SNP loci, quantitative and semi-qualitative gene expression analysis), in plants (typing of transgenic plants, linkage and GMO analyses, pathogen detection and quantitative and semi-qualitative gene expression analysis) and in pathogens (hygiene analyses, pathogen detection, quantitative and semi-qualitative gene expression analysis) (Markoulatos, Siafakas and Moncany, 2002; Qiagen Multiplex PCR handbook, 2010). The present report aims at utilizing multiplex PCR in detection of Fabry disease, which is a genetic disorder in humans. Fabry disease is a genetic disorder that is inherited from parents to the progeny. It is caused by a mutation in alpha galactosidase gene (α GLA) that results in alpha galactosidase A enzyme deficiency. This is a X-linked gene carried on a mother’s X chromosome and the sons of a mother with this mutation will have 50% chance of inheriting the disorder while daughters will have a 50% chance of being disease carriers. Fabry disease affects mainly males i.e. 1 in 40,000 in classical phenotype of Fabry disease and 1 in 1300 – 3500 in later-onset phenotype (Dobrovolny et al., 2011). It also affects females but in a lesser extent. In Fabry disease, α-GLA gene has mutations in a larger portion of its sequence (50bp Read More