HSS 3305 Lecture Notes - Lecture 9: Single-Nucleotide Polymorphism, Noncoding Dna, Null Allele

• School: University of Ottawa
• Department: Health Sciences
• Course: HSS 3305
• Professor: Karen Philips

Document Summary

Pathophysiology- oct 10/13 (genetics and gastro: lecture 9+10) Genes: gene is a locus (region) on dna that determines the synthesis of a given mrna and hence a protein or polypeptide. Polymorphisms: existence within a population of several versions of the same gene (several alleles, polymorphism mutations common to the population, not pathogenic so mutation does not necessarily mean disease. Abo gene producing slightly different enzymes: expression of the phenotype in offspring depends on the mode of transmission. Sequencing technology: sequencing technology has also demonstrated numerous nucleotide polymorphisms: Genetic diseases: diseases caused by one or combination of variations in the genome of an individual, development of any disease is under the influence of both environmental factors and genetics, 4 types: easiest to understand monogenetic diseases. Autosomal dominant: almost always expressed (aa, aa- a is expressed, express their phenotype even when paired with a different allele (when heterozygous, the phenotype appears the same in both the heterozygous and homozygous states.