Identifying Splicing Genes And Evaluating Conservation Of Identified Splicing Mutations

1382 Words Sep 22nd, 2016 6 Pages
Identifying Splicing Mutations in Case Study Genes and Analyzing Conservation of Identified Splicing Mutations
Samantha Maguire

During the gene expression process in the human genome, introns within genes are spliced by pre-mRNA splicing in order to generate mature messenger RNA. An essential component of splicing is the spliceosome 's precision in recognizing exon and intron borders. A failure to accurately remove the intervening regions while keeping the encoding regions intact results in a mutation of the gene. Although not all mutations have a negative impact on the function of a gene, disease-causing mutations most often do and may disrupt splicing (3). In this research, splicing mutations were specifically analyzed in three genes: HMBS, BTK, and MLH1.
Negative splicing mutations are likely to result in acute intermittent porphyria within the HMBS gene, Lynch Syndrome in the MLH1 gene, and X-linked agammaglobulinemia in the BTK gene (4).
Acute intermittent porphyria is an autosomal dominant disease caused by mutations that reduce hydroxymethylbilane synthase (HMBS) enzyme activity by 50% or more. Substances called porphyrins, which are monitored by HMBS enzymes, build up within the liver and bloodstream (7). AIP is marked by severe attacks of abdominal pain, gastrointestinal dysfunction, and neurological changes. Most affected people suffer only a few attacks in their lifetime, while recurrent attacks affect 5% of sufferers. AIP’s prevalence is about 5.9:1,000,000 is…

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