genomikoak Flashcards

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1
Q

zer da mutazio genomiko eta motak

A

espeziearen kromosoma kopuru propioaren aldaketa
1. euploidia
2. aneuploidia

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2
Q

zer da euploidia

A

mutanteak zeluletan berezko kromosoma sorta oso bat edo gehio du
1. haploide
2. diploide
3. triploide
4. tetraploide

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3
Q

haploidia

A

kromosoma sorta bakarra dago
iadb: erleek
erle erreginak :32
arrak: 16 (fisikoki desberdinak)

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4
Q

poliploidiak

A

kromosoma sorta oso bat baino gehio
landareetan gehio
sailkapena:
1. autopoliploidia: krom sorta oro espezie beretik
2. alopoliploidia: krom sorta espezie hibridaziotik datoz

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5
Q

poliploidia landareetan

A

espezie berriak sortzeko prozesu arrunta
hibridazio + gurutzamenduak
abantailak: hazi handiagoak + erresistentzia
adb: garia hexaploide

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6
Q

aneuploidiak zer dira eta nola gauzatu

A

kromosoma oso bat edo 2 aldatu
1 galdu : monosomia
1 irabazi: trisomia
nola gertatzen da: meiosiko 1/2 anafaseetan akatsa kromosomen segregazioan

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7
Q

aneuploidia motak

A
  • nulisomia: krom pare bat falta 2n-2
  • monosomia: kromosoma bakarra falta (2n-1)
  • trisomia: gehiegizko 1 (2n+1)
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8
Q

PATAU sindromea

A
  1. trisomia
    - fetuek ez dute garapen enbrionarioa pasatzen
    - erbi ezpainak
    - 6 atzamar
    - bihotz arazo
    - adimen urria
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9
Q

EDWARDS SINDROMEA

A
  1. trisomia
    * garapen/adimen urritasuna
    * aho/sudur txiki
    * animalia antzeko belarriak
    * heriotza goiztiarra
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10
Q

DOWN SINDROMEA

A

21 trisomia
* mongolismoa
* loditzeko erreztasuna
* aurpegi borobil handi
* bihotz/digestio/endokrino arazoak

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11
Q

sexu kromosometan aneuploidiak
ze sindrome

A
  1. klinelfelter: XXY
  2. turner: XO
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12
Q

kinelfelter

A

xxy
gizona
emakume ezaugarriekin
adimen atzeratua

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13
Q

turner sindromea

A

emakumeak
karak sexual garatu gabe
adimen garapena
antzuak
baxuak

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14
Q

mutazio genomikoen detekzioa

A
  1. kariotipo bandeatua
  2. espektrala: homologoak neon/fluorezsentziaz ikusita kariotipoa errazago
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