University:
Swansea University
Course:
PM-133 | Evolutionary and Molecular Genetics
Academic year:

2023
Views:

377

Pages:

4
Author:

Amal J.

whileMotation and Kepair MechanismsStructure and number - chromasonal mutationGene mutationAneuploidy- Phen olypic changesPolyploidyTransversion etc- function of gene in alteredMotationsomaticGiermlinecelldoesnt makebarmfulXtrooble usually butpassed togeture generation.when madeimmotile, it can causeInsertions & Deletionscancer.GeneMutation (Phenotypic)transition in 2nd positionchangePoint Mutation/in aaBase substitutionPyrmidhydrophobicby a siniomutationPurinehydrophilicaa-transition in allposition usuallyTransition Transversionhas no effectTA3 Pur Pyr CPur PynG Pur Pyn TPyz C PurAACTGHporsibilitiesCA8 possibilitiesbut commonly occuring GTTIG. transversion in 3 . position usually has no effect.Insertions and deletionsin ORFchanges readingframeDeletionAADOACTT GCC GTA CAAFS E P H VFrame shiftmutationIf sgets deletionAA A CTT GCCC GTA CAAdeletionalFEPbases as aHmultiplect 3In frame deletionthatchanges.amino acidsequencebotInsectionnot thereadingtraveAAA CTCA CTT GCC GTA CAAFrame shift Insertion (multiple of 3)AAA GTC TCA CTT GCC GTA CAAInframe insation Trinucleotide expansion - 100 of repeats- strond slippage:Fragile egg syndrome due to a trinucleotide expansCGGGET expended in longarm of -chromosomenormally 50-60 CGG repeatsin long arm.Infiagilesysdeom it increase to 1000make tip of X-chromosome coative tenderand it breaks during segregation- In non coding regionHuntington disease- - CAG repeats expand in autosomalChro mosome- CAG - more than 100- normal los than 40- In coding regionno: of glutamine inCAGGlutaminethe protein sequenceincreasesProtein with polyglotansin troxin. Strond SlippageCAG CAG CAG SAG CAGInternalcomplementarysequenceDuring replication more no: ofcopieswill beformed due to Itemloopformation by strend slippagedaughterStrondhelicaseslippage& stem@ ploopformation.increase {(InsectionJacohson syndiomeTemplateloopCGG autosomal chromosomedeletion