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G 61-80

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Quiz on G 61-80, created by AAAAAA 099 on 28/05/2025.
AAAAAA 099
Quiz by AAAAAA 099, updated 5 months ago
AAAAAA 099
Created by AAAAAA 099 5 months ago
151
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Resource summary

Question 1

Question
Exemple de patologii monogenice cu transmitere AD sunt:
Answer
  • Boala polichistica renala
  • Fenilcetonuria
  • sdr Marfan
  • sdr Alport
  • b. Huntington

Question 2

Question
Exemple de patologii monogenice cu transmitere AR sunt:
Answer
  • anemia S
  • fenilcetonuria
  • hemofilia A
  • hemofilia B
  • hipercolesterolemia familiala

Question 3

Question
Exemple de patologii monogenice cu transmitere XD sunt:
Answer
  • Boala polichistica renala
  • sdr Alport
  • sdr Marfan
  • sdr X-FRA
  • fenilcetonuria

Question 4

Question
Exemple de patologii monogenice cu transmitere XR sunt:
Answer
  • distrofia musculara Duchenne
  • sindromul Alport
  • hemofilia B
  • fenilcetonuria
  • beta-talasemia

Question 5

Question
Expansiunile trinucleotidice in gena Htt determina defectul huntingtinei (un segment poliGLU in proteina) si degenerarea progresiva a creierului. Mutatia data afecteaza:
Answer
  • Unul din intronii genei Htt
  • Unul din exonii genei Htt
  • Promotorul genei Htt
  • Terminatorul genei Htt
  • Enhancerul genei Htt

Question 6

Question
Fibroza chistică (mucoviscidoza) se produce ca rezultat al mutațiilor în gena CFTR (7q31) cu sinteza unui canal de Cl defect si se caracterizeaza prin:
Answer
  • transmitere autosomal recesiva
  • determinism monofactorial
  • heterogenitate alelica
  • heterogenitate de locus
  • expresivitate variabila

Question 7

Question
Fragmentele de restricție:
Answer
  • Sunt întotdeauna de aceiași lungime
  • Se obtin in urma clivarii ADN cu restrictaze
  • Fiecare fragment reprezinta o genă
  • Sunt monocatenare
  • Contin numai exoni

Question 8

Question
Gena responsabila de Anemia S este:
Answer
  • HBA
  • HBB
  • DMD
  • COL4A5
  • FMR1

Question 9

Question
Gena responsabila de boala polichistica renala este:
Answer
  • PAH
  • PKD1
  • LDLR
  • CFTR
  • DMD

Question 10

Question
Gena responsabila de fenilcetonurie este:
Answer
  • FBN
  • COL1A1
  • PAH
  • PKD
  • F9C

Question 11

Question
Gena responsabila de Hemofilia B este:
Answer
  • FMR1
  • PAH
  • F9C
  • F8C
  • HBB

Question 12

Question
Gena responsabila de mucoviscidoza este:
Answer
  • LDLR
  • FMR
  • PAH
  • CFT
  • DMD

Question 13

Question
Gena responsabila de sdr Alport este:
Answer
  • F9C
  • PAH
  • DMD
  • COL4A5
  • PKD1

Question 14

Question
Gena responsabila de sdr Hemofila A este:
Answer
  • HEXA
  • F8C
  • F9C
  • PAH
  • FBN1

Question 15

Question
Gena responsabila de sdr Li-Fraumeni este:
Answer
  • F9C
  • TP53
  • HBA
  • CFTR
  • RGH

Question 16

Question
Gena responsabila de sdr Marfan este:
Answer
  • PAH
  • FBN1
  • COL4A5
  • PKD1
  • F9C

Question 17

Question
Gena responsabila de sindromul X-FRA este:
Answer
  • FBN1
  • PKD1
  • FMR1
  • HBA
  • COL1A1

Question 18

Question
Genele alele:
Answer
  • pot fi identice
  • pot fi diferite
  • ocupa loci identici pe crs omologi
  • ocupa loci identici pe crs diferiti
  • pot fi de origine paterna / materna

Question 19

Question
Genele cu loci apropiati pe acelasi crs definesc:
Answer
  • un grup de inlantuite
  • genele alele
  • genele nealele
  • haplotipul
  • caracterele holandrice

Question 20

Question
Genele unui cromozom:
Answer
  • pot fi active in toate perioadele ontogenetice
  • pot fi active numai prenatal
  • pot fi active numai la pubertate
  • pot fi active numai la adult
  • pot fi active doar in vitro
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