mutazioak orok: def,sailkapena Flashcards

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1
Q

zer da mutazioa

A

material genetikoaren aldaketa
bat-batekoa eta iraunkorra

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2
Q

ze ondorio ditu mutazio batek

A

gaixotasun eta asaldura genetikoak
indibiduoen arteko aniztasun genetikoa = eboluzioa

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3
Q

ondorioa genearen arabera

A

genearen arabera eragin desberdina
1. ESTRUKTURALA: eragina proteinen egitura primario = funtzioa aldatu = proteina akastuna
2. ERREGULATZAILE: gene estrukturalen adierazpena aldatu = gene bat adierazi / edo ez

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4
Q

mutazioen sailkapena esk

A
  1. zelularen arabera
  2. ondorioen arabera
  3. adierazpen genikoaren arabera
  4. material genetiko kantitatearen arabera
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5
Q

zelularen araberako mutazioak

A
  1. somatikoak: zelula ez sexualetan , indibiduoan mosaiko genetikoa agertzen
  2. sexualak/germinalak: gametoetan ,, ondorengoei transmititu
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6
Q

mosaiko genetikoa

A

genotipo desberdineko zelulak daudenean

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7
Q

ondorioen arabera

A
  1. NEUTROAK: eraginik ez biziraupenean, ondoriorik ez
  2. ONURAGARRIAK: abantaila , biziraupena handitu
  3. KALTEGARRIAK: desabantailak 3 mota: letal,erdiletal,patologikoak
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8
Q

mutazio kaltegarriak portzentaia

A
  1. letala : 90 hil
  2. erdiletalak: 10 gutxiago hil
  3. patologikoak: heriotza ez ,, gaixotasuna bai
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9
Q

adierazpen genikoaren arabera

A
  1. dominante : beti adierazi ; homozigotiko,hetero
  2. errezesiboa: homozigotikoan soilik
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10
Q

material genetiko kantitatearen arabera

A
  1. geniko//puntualak : nukleotido sek aldatu gene batean
  2. kromosomiko: kromosomen egituran aldaketa
  3. genomiko: kromosoma kopurua aldatu
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11
Q

locus

A

genearen kokapena

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12
Q
A
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13
Q

alelo

A

ezaugarri/karaktereen aldaerak

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14
Q

fenotipo/genotipo

A

genotipo : geneetan agertzen dena
fenotipo: adierazten dena

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15
Q

mutazio genetikoen detekzioa

A
  1. DNA sekuentziatuz : PCR
  2. DNA laginak: AMNiOZENTESIA
  3. genomikoak
    - kariotipo bandeatua
    - kariotipo espektrala
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