CMMB 413 Final Exam Review Actual Questions and Answers Solved 100%

CMMB 413 Final Exam Review Actual Questions and Answers Solved 100% Types of DNA Variation - Answer ️️ -- single nucleotide variant (SNV) - small nucleotide insertion/deletion - dynamic mutations - microsatellite - copy number variation (CNV) Single Nucleotide Variants (SNVs) - Answer ️️ -- most common type of sequence variation - >3 000 000 per person - can be benign or disease causing Initiation Codon (Start Codon) - Answer ️️ -AUG (methionine) Stop Codons - Answer ️️ -UGA, UAA, UAG 20 - Answer ️️ -number of amino acids 64 - Answer ️️ -number of different codons SNV Effects - Answer ️️ -- nucleotide substitutions within genes - duplications/deletions Types of Nucleotide Substitutions - Answer ️️ -- silent (synonymous) - missense (non-synonymous) - nonsense - read through Silent/Synonymous Substitutions - Answer ️️ -DNA sequence change doesn't alter the amino acid coded Missense/Non-synonymous Substitution - Answer ️️ -DNS sequence change alters the amino acid coded Nonsense Substitution - Answer ️️ -DNA sequence change results in a stop codon Readthrough/Nonstop Substitution - Answer ️️ -DNA sequence change results in a stop codon loss Frameshift Mutation - Answer ️️ -- results from small duplications/deletions - number of bases is not divisible by multiples of 3 Dynamic Mutations - Answer ️️ -- major cause of neurological disorders - expansion of a simple repeat in coding or noncoding regions (repeat expansion) - reduced-penetrance alleles & variable expressivity Repeat Expansions - Answer ️️ -- dynamic mutations - DNA sequences repeated multiple times in a row Anticipation - Answer ️️ -- earlier age at onset of disease throughout successive generations Huntington's Disease - Answer ️️ -shows anticipation through paternal inheritance FRAX & DM1 - Answer ️️ -shows anticipation through maternal inheritance CMT1A - Answer ️️ -- large CNV duplication - progressive peripheral motor & sensory neuropathy Large Deletion/Duplication of CNV Mechanisms - Answer ️️ -- mediated by repetitive sequences - predisposes to non-allelic homologous recombinations (NAHR) HNPP - Answer ️️ -- large CNV duplication - peripheral nerves unusually sens