IBEHS 2P03 Study Guide - Midterm Guide: Single-Nucleotide Polymorphism, Megaloblastic Anemia, Tetrahydrobiopterin Deficiency
21 Apr 2019
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Includes: promoters, protein coding, reporters, rna, terminators, signalling, many project parts. Health issue: megaloblastic anemia: a rare condition, formation of unusually large, abnormal precursors to red blood cells (termed magaloblasts) Critical enzyme in folate (or folic acid) metabolism: folate is one of the b vitamins which is essential for a number of cellular processes such as dna production and amino acid processing. Health issue is due to reduced levels of dhfr enzyme activity: megaloblastic anemia and/or, pancytopenia, severe cerebral folate deficiency, cerebral tetrahydrobiopterin deficiency. Dhfr gene codes for the dihydrofolate reductase (dhfr) enzyme: dhfr enzyme catalyzes the conversion of dhf to thf (dihydrofolate to tetrahydrofolate, thf is needed for synthesis of thymidine, which is required for synthesis of nucleic acids (dna) Mutations in the dhfr gene dhfr deficiency. Specifically a homozygous mutation, c. 458a>t, in exon 5: protein asp153val substitution, aspartate valine. Diploid organism contain two copies of each gene. Homozygous mutation mutation of only one allele.
