2C: Inheritance Flashcards

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1
Q

what is the process of DNA replication

A
  • DNA helicase breaks the hydrogens bonds between the two polynucelotide strands
  • complemtary base pairing takes place with each single template strand
  • condensation reactions join the nucleotides of the new strands together and hydrogen bonds form between the new and OG strands
  • each new DNA molecule contains one strand from original DNA strand
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2
Q

what is the role of DNA polymerase

A

to make sure the dna is accurately copied and to keep maintenance of the gene

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3
Q

how did meselson and stahl prove DNA replication was semi-conservative

A

DNA settled between the top and bottom of the centrifuge, proving that during replication, the DNA is mixed

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4
Q

how does genetic muatations happen

A

changes in AA sequence which affects the function of a protein
- DNA replication errors

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5
Q

how does a chnage in AA sequence affect the protein

A

the primary structure can change
- changes function
- changes shape

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6
Q

what DNA replication errors can happen

A

substitution
deletion
insertion
duplication
inversion

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7
Q

what is DNA substitution

A

one base is substituted another
- bases get swapped

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8
Q

what is DNA deletion

A

one base gets deleted from sequence

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9
Q

what is DNA insertion

A

an extra base is added to sequence

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10
Q

what is DNA duplication

A

one or more bases are repeated/ copied twice

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11
Q

what is DNA inversion

A

sequence of bases get reversed

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12
Q

what is a gene

A

a sequence of bases that code for a protein for certain characteristics

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13
Q

what is allele

A

different types of a gene ie blue eyes allele or brown eye allele

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14
Q

what is a genotype

A

the alleles a person has

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15
Q

what is a phenotype

A

the characteristics displayed by an organism due to their alleles

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16
Q

what is incomplete dominance

A

when a trait from a dominant allele is not completely shown so both alleles influence phenotypes

17
Q

How does CF affect the respiratory system

A

due to thick and sticky mucus
- cilia unable to move mucus towards throat therefore airways get blocked
- can prevent gas exchange from taking place therefore smaller SA for gas exchange to take place resulting in breathing difficulties
- more prone to lung infections

18
Q

how does CF affect the digestive system

A
  • the tube connecting pancreas to small intestine can become blocked - preventing digestive enzymes reaching the small intestine -> less nutrients absorbed from food and reduced ability to digest food
  • mucus can cause growth of cysts in pancreas -> inhibits production of enzymes
  • mucus lining small intestine is abnomally thick therefore inhibiting absorption of nutrients
19
Q

how does CF affect the reproductive system

A
  • in men, the tubes between reproductive organs can become blocked and no sperm can reach the p*
  • in women, thickened cervical mucus prevents sperm from reaching the egg therefore reduces mobility of sperm and reducing likelihood of sperm reaching the egg
20
Q

what is genetic screening

A

scanning DNA to analyse if it contain genetic diseases

21
Q

what are the main uses of genetic screening

A
  • identify genetic disorder carriers
  • preimplatation genetic disorders ( reduces chance of having a baby with genetic disorder)
  • prenatal tetsing (2 types)
22
Q

what are the two types of prenatal testing

A

aminiocentesis and chrionic villus sampling

23
Q

what happens during amniocentesis

A

a sample of amniotic fluid is taken using a very fine needle

24
Q

when is amniocentesis carried out

A

15-20 weeks into pregnancy

25
Q

risks of amniocentesis

A

1% of miscarriage

26
Q

what happens during chorionic villus sampling

A

sample of cells is taken from chorionic villi ( part of the fetus)
- done via abdomen w fine needle or via v* w a catheter

27
Q

risks of CVS

A

1-2% of miscarriage

28
Q

when is CVS carried out

A

11-14 weeks in pregnancy

29
Q

what are the social and ethical concerns with genetic screening

A
  • parents make informed decision on if an abortion is needed or not
  • false positives can lead to abortion of a healthy baby
  • quality of life of a child w genetic disorder isn’t always bad
  • unethical and immoral to abort baby just bc it has a genetic disorder