mutatii
TRANSCRIPT
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MUTATII
curs
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mutatii
Tipuri de mutatii
Factori mutageni
Mecanisme de producere a mutatiilor
Consecinte genotipice si fenotipice ale mutatiilor
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mutatii
Mutatiile reprezinta o importanta sursa de variabilitate
Termenul a fost folosit pentru prima data de Hugo de Vries in 1901
Mutatia reprezinta orice modificare in secventa sau aranjarea nucleotidelor din ADN
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Clasificare
In functie de marimea materialului genetic implicat :
Mutatii genice
Mutatii cromozomiale
Mutatii genomice
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Clasificare
In functie de tipul de celule afectate , mutatiile pot fi
Mutatii germinale – ereditare Mutatii somatice – care nu se transmit
generatiilor urmatoare
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Clasificare
In functie de cauza , mutatiile pot fi :
Spontane
Induse sub actiunea agresiva a unor substante exogene
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Mutatii induse
Erori de copiere in cursul replicarii
Modificari structurale ale bazelor azotate prin tautomerizare
Degradarea spontana a bazelor azotate
Alterarea unor baze azotate sub actiunea RLO
Mutatii frameshift spontane
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Clasificare
Dupa actiunea fenotipica : Neutre Favorabile Defavorabile / patogene
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Factori mutageni
Agenti mutageni chimici
Agenti mutageni fizici - radiatii
Agenti mutageni biologici
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Mutageni chimici
Analogi ai bazelor azotate
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Mutageni chimici
Mutageni ce altereaza structura si proprietatilor bazelor azotate
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Mutageni chimici
altereaza structura bazelor azotate
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Radiatii ionizante
Rupturi mono - / bicatenare
Genereaza specii reactive de oxigen – radicali liberi de oxigen cu efect mutagen
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Radiatii UV
Dimeri pirimidinici
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Tipuri de mutatii- mecanisme de producere
Substitutia unui nucleotid
CTGGAG
CTGGGG
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Tipuri de mutatii
Insertii
CTGGAG
CTGGTGGAG
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Tipuri de mutatii
Deletii
CTGGAG
CTAG
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Tipuri de mutatii
Mutatii frameshift – mutatii cu schimbarea cadrului de lectura
AAG AGT ATC ACT AAG lys ser ile thr lys + 1 nucleotid
AAG GAG TAT CAC TAA G lys glu tyr his stop
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Tipuri de mutatii
Mutatii non sens- substitutia unui nucleotid va produce un codon STOP
ATG ACC GAC CCG AAA
met thr asp pro lys
ATG ACC GAC CCG TAA
met thr asp pro STOP
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Tipuri de mutatii
Forward – o varianta alelica normala trece intr-o varianta mutanta
Reverse- o varianta alelica mutanta trece intr-o varianta alelica normala (mai rar)
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Tipuri de mutatii
Expansiunea instabila a repetitiilor trinucleotidice
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Boli produse prin expansiunea repetitiilor trinucleotidice
Sindromul X fragil
Distrofie miotonica
Boala Huntington
Epilepsia mioclonica
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curs
In sfarsit s-a terminat!!!