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Detection of Fabry disease - Essay Example

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In the paper “Detection of Fabry disease” the author analyzes Multiplex Polymerase chain reaction (Multiplex-PCR) and 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…
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Detection of Fabry disease

Download file to see previous pages... 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<) which result in an error in the glycosphingolipid metabolism. This results in building up of certain type of fat in body cells which in turn buildup signs and symptoms that affect many parts of the body including cardiovascular system and kidney.  Over 620 GLA disease-causing gene mutations were identified in families affected with Fabry disease. Out of the many methods available for detecting such gene mutations (deletions and duplications), PCR-based techniques are more suitable than Southern and Nothern hybridizations. Multiplex PCR is an excellent technique that can detect gene mutations of α-GLA. Gene deletions in GLA in Fabry patients has been successfully identified using multiplex ligation dependant probe amplification (MLPA) (Schirinzi et al., 2008).Test protocol of Multiplex PCR A standard test procedure for multiplex PCR is summarized below. Detailed instructions with respect to shipping and storage conditions, technical assistance, safety information, product use limitations, quality control (master mix, buffers and reagents etc.) and product information can be obtained from Quiagen multiplex handbook (2010). Important notes before starting: • Use established annealing temperature in combination...
It also affects females but in a lesser extent. In Fabry disease, ?-GLA gene has mutations in a larger portion of its sequence (50bp<) which result in an error in the glycosphingolipid metabolism. This results in building up of certain type of fat in body cells which in turn buildup signs and symptoms that affect many parts of the body including cardiovascular system and kidney. Over 620 GLA disease-causing gene mutations were identified in families affected with Fabry disease. Out of the many methods available for detecting such gene mutations (deletions and duplications), PCR-based techniques are more suitable than Southern and Nothern hybridizations. Multiplex PCR is an excellent technique that can detect gene mutations of ?-GLA. Gene deletions in GLA in Fabry patients has been successfully identified using multiplex ligation dependant probe amplification (MLPA) (Schirinzi et al., 2008). Test protocol of Multiplex PCR A standard test procedure for multiplex PCR is summarized below. Detailed instructions with respect to shipping and storage conditions, technical assistance, safety information, product use limitations, quality control (master mix, buffers and reagents etc.) and product information can be obtained from Quiagen multiplex handbook (2010). Important notes before starting: Use established annealing temperature in combination with the cycling conditions specified in the protocol. Annealing time must be 90 seconds Use equal concentrations (0.2µM) of all primers Start PCR with an activation step of 15 minutes at 950C Procedure: Step 1. Thaw 2x QIAGEN Multiplex PCR Master Mix (if stored at –20°C), template DNA, RNase-free water, and ...Download file to see next pagesRead More
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