Pathology 3240A Chapter Notes - Chapter 8: Frameshift Mutation, Fragile X Syndrome, Mendelian Inheritance
28 Nov 2016
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Document Summary
Basic concept of experimental/diagnostic tools in genetics. Flow of genetic information is from dna rna protein. First complete sequence in 2000 (rough draft); 20003 = essentially complete. 2 x 22 autosomes + 2 gonosomes (x or y chromosome) + mitochondrial dna (mtdna) ~ 20 000 protein encoding genes (only) 2% coding dna. Mutations are defined as permanent changes in dna. In germ cells: can be transmitted to progeny giving give rise to inherited disease, or predisposition to familial cancers. In somatic cells: not transmitted to progeny (e. g. cancer, some congenital malformations) Sporadic (random onset) and familial (inherited) mutations. Autosomal (any chromosome besides sex chromosome) and gonosomal (x or y [sex] chromosome) mutations. Recessive (requires homozygosity to see change in phenotype) and dominant (heterozygosity results in change in phenotype) mutations. Somatic (not inheritable) and germ-line (gametes; inheritable) mutations. Missense: replacement of one nucleotide base by another resulting in a placement of a different amino acid.
