Mutation

Question 1

CNV

Answer 1

Bir bireyin genomundan bulunan bir genin kopya sayılarında bulunan farklılıklardan oluşan genetik karakter özelliklerini ifade eder

Question 2

Locus

Answer 2

Segment of DNA

Question 3

Wild-type:common

Answer 3

Variant/mutant allel

Question 4

Class of mutation

Answer 4

—chromosome mutation:not structural (number of chromosome change) most frequently seen
Aneuploidy
—regional/subchromosomal mutation:structural
Translocation
Partial
Duplication
Deletion
—gene/DNA mutation:point
Point mutation (base substitution)
Deletion(lose) //ikisinin de büyük küçük diye alt grupları var//
Insertion (addition)
Dynamic mutation(expand of repeated side)gametogenesis esnasında genişleyebilir

Question 5

Translocation

Answer 5

Eksik ya da kırık bir kromozom parçasının başka bir kromozoma bağlanmasıdır

Question 6

Location of mutation

Answer 6

Cell level
—gametic/germline
—Somatic
Genom level
—intergenic
—intragenic (daha fazla etkiler)

Question 7

Errors that occur during DNA replication

Answer 7

Proofreading

Question 8

Failure to repair DNA after damage

Answer 8

Spontaneous chemical process(deamination)
Chemical mutagens
UV, ionizing radiation
Often result in permanent mutation

Question 9

Deamination

Answer 9

Remove of amino. Group

Question 10

DNA:Point,Frame-shift

Answer 10

Protein:missense(aa değişir)non-sense(sonlandırma codonuyla bitmesini sağlar)

Question 11

Missense mutation

Answer 11

Silent mutation (aa değişmez)
Conservative mutation (benzer işlevsel aa)
Non-conservative mutation(işlevsiz aa)

Question 12

Transition=means substitutions of one purine for the other or one pyrimidine for the other

Answer 12

Transversion means the replacement of purine for pyrimidine

Question 13

Hotspot mutation

Answer 13

Diğer yerlere göre mutasyona daha duyarlı ve dayanıksız bölgeler

Question 14

Mutation

Answer 14

Mutation are in non coding sides
Does not effect RNA modification
Are not in the active side of protein

Question 15

Frame-shift mutation

Answer 15

Çerçeve kayması mutasyonu, bir genin protein kodlayan kısmında ya birkaç baz çiftinin girmesi ya da çıkması ile oluşan mutasyon çeşididir. Bu girme ya da çıkma noktasından itibaren kodonların doğru okuma çerçevesinde bir kayma olur.

Question 16

Two main mechanism of gene mutation

Answer 16

Replication error
System mutation
—point mutation mostly seen in males

Question 17

Longer oocytes remain in meiosis 1 the greater the change of disjunction occur

Question 18

Mutagens

Answer 18

—Ionizing radiation(destroy deoxyribose ring)
Xray/gamma rays/alpha ,beta particles,neurons
—ultraviolet
—high temperature
—varied Ph

Question 19

Tautomers

Answer 19

Two molecules with same molecular formula but different connectivity

Question 20

Chemical mutagens

Answer 20

Base analogs:5-BrdU
Nitrous acid(yemek sürecinde etleri korur)//leads to deamination of cytosine and adenin
Alkylating agent//alkylation of guanosine in 6th position
Hydroxylamines//hydroxylate to cytosine after tautomerization cytosine can pair with adenine
Acridine dyes(tripaflavin) can intercalate DNA and give rise to frameshift
Aflatoxin

Question 21

5-BrdU

Answer 21

When brdu keto form it pairs with adenine.When the replication starts adenine can pair with brdu or thymine.Brdu in the keto form easily binds with adenine.When keto-enol shift occurs it easily binds to guanine.

Question 22

Polycyclic aromatic hydrocarbons can bind to DNA and lead to errors in replication