Mutations ‘GEB 204 General Genetics and Genetic Analys Ele re ee eee teat + mot noc nt) wil nthe bei ene) + Change RNA code or ness tel Mutations sete Lecture 11 4 Taman ar ey er we seo Arindita Das Sosewerepoatvraions ‘acer 3) Seon tare ntti reset bac reno owl pote, eee ae ip Gueean anoasas renee evasion) oman an tngrening 3. Seuhmcses nor pwenony psstsasn, sentwet Vaterty « Inmlacelar oslo od caer of mutton Bdalacs Sate uo yrmtne eins Somat matains 4 DWAica highly stable molecule that replicates wih amazing acacy oT iekrinthe matics 3 Some erorsofrepeton do oear 3 Pasedon cerca hough she proces fms 3 Anutationisdetned can nherte change in gene formation 3) tte mustensdopndo ie pect the in which hy Acti he deropetal sage te oon . occ aryindevelepnnt gr the elo fhe mutated els Germ tine mstatons Or They ocr inthe el tat proce ates Pau ant fiir gener ‘& nmultcalar organise, he term mutations general used ogee‘Mutations can occur in somatic or germinal cells Other Types of Mutations “Splice mutation: produces splice star emoves one (aly in eukaryotes) “Temperature senive: muon causes a cage te protein Fncion which it tempest sentye Usually the protein finctons neal lower petssble ‘empersaes 30°C) brie nate at ger tempers AOC), “+ Revernlon tution which ever o wid type, refeed toa erat, ey mutation: A mulation which does aller the organism ander normal itions Il sow up rss conditions mass = Chromosomal Mutations am 1) Chromosomal Mutations 2) Gene Mutations cae 1. Deletion (Chromosomal Mutations 2. Duplication 3. Inversion he chromanamer arcs yp DNA shave 1 pat erences th pe chromo mse paren, 4. Translocation ndernomal cnason al th nese oer a 5 NonDisjanetion “cient ne high ieee wl roo “Chromscome mutton hve proved bee res ican apd log: age (ectag order) sea Sond sd mecianeChromosomal Deletion(or Deficeney) Loss of @ potion of cromosome in anaphase movement is called = < (lost) Bzample Tuner snare 2 ol rshhorn sya (severe ental retardation) 2 Human babies ming a portion of chromosome 5 sutorome) have a snc cat ike cry; hence he French name cl du hat yf the ct) Chromosomal Inversion Inversion inves 2 rotation of a part of chromosome or 2 set of genes by 180on sown acs ren ips around bsckwaras ‘Segment ations COREREFD — COREE ten FY a ee inant ee ord argle ow fairs (Chromosomal Duplication ‘The presence of a part of 2 chromosome in excess of normal ompementiskaown as cupication ‘curs when agane sequence repeated Ihigh reed oct. cow fet confnacto awe ‘Kelaned ens anotardplstan cates Roy wing) Chromosomal Translocation ‘The shifing or ansferof apart of tromvome oa set of genes toa non-pomologoae one i caled uaslocstio, = | Ih SS | komen 8&4 ae cached cnisog Sk {opione emer ph me nieNondisjunetion + Cromosames FAIL TO ch SEPARATE drng mele ie src pas ers — poeaaed —! \ Ae JAR W Dae Monecomy ‘Causes gamete to have too ‘any orto fet eramosomes 5 or. Nondisjunction en. + tay i tay wine cp thromowome stead of? += Thisconiion i ald TRISOMY 2 aveomy 21 = Invi ht 3 crit of crore #21, + Mos chromosomal miations re lthl as + sf fs survives: Tend wo cuts wide spend sbnoraliten @ + YD + Euample: Down Syeiome * perttnaton Cause: Nonjnetin of chromosome 21 “Three copies af eromosome 21 ~“TRISOMY 21"‘Trisomy 21 - Down Syndrome HOC 44 LK Iss Oy weu je le ie y < " ,} Chromosome Mutations es ents “Chromosome 2 doesnot separate comely “They have 47 chromosomes in tad of 6. * Cilden with Down Syrome develop slower may Tave heat and stomach neste aad vay gray thee degre of ntligence, + Crtdwchat "Deki of miei on 3 Crone * Chace bythe ca ke cry made by edo ahi “Nand ves of metal handicaps Chromosome Mutations “orem Consens ADC* DEF + Dette ‘sae pas Sex Chromosome Abnormalities ‘Kineters Syndrome «turers Syndrome = Female © sevorgens dont mature at ‘dolesconce ~ eity mee foot wie eee gh las ae, Little oF no visible differences. ig ce acer