Topic 2C : Inheritance Flashcards

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1
Q

gene

A

sequence of based on a DNA molecule that codes for a sequence of amino acids in a polypeptide

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2
Q

allele

A

a different version of a gene

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3
Q

genotype

A

the alleles a person has

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4
Q

phenotype

A

the characteristic displayed by an organism

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5
Q

incomplete dominance

A

when trait from a dominant allele isn’t completely shown over the trait produced by the recessive allele so both alleles influence the phenotype

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6
Q

monohybrid inheritance

A

inheritance of single characteristic controlled by different alleles

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7
Q

what allele causes cystic fibrosis

A

recessive

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8
Q

explain what happens in people with cystic fibrosis

A
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9
Q

explain how cystic fibrosis affect the respiratory system

A

cilia unable to move mucus towards the throat as its sticky and thick so mucus builds up in the airways

airways become blocked by mucus so gas exchange cant happen below the blockage

surface area for gas exchange reduced causing breathing difficulties

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10
Q

explain how cystic fibrosis affects the digestive system

A

mucus blocks tube connecting pancreas to small intestine preventing digestive enzymes produced by the pancreas from reaching the small intestine

mucus causes cysts to form in pancreas which inhibit the production of enzymes which reduces the ability to digest food and absorb nutrients

mucus lining the small intestine is abnormally thick and inhibits the absorption of nutrients

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11
Q

explain how cystic fibrosis affects the reproductive system

A

tubes connecting the testicles to penis are absent and can become blocked in others so sperm produced cant reach the penis

thickened cervical mucus prevents sperm reaching the egg so sperm has to travel through thick mucus to reach the egg which reduces its motility and its chances of making it to the egg

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12
Q

what causes a change in the function of the CFTR protein

A

mutation in the sequence of amino acids coding for the protein

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13
Q

explain how a disfunction in the CFTR protein causes thick mucus

A

chloride ions cant leave the cell and enter the mucus through the CFTR protein channel

sodium ions dont move into the mucus and therefore water moves out of the mucus into the cell by osmosis

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14
Q

describe the role of the CTR protein in enduring that the mucus produced in the lungs has the right consistency

A

chloride ions leave cells through CFTR chanell protein into mucus

sofiym ions follow the chloride ions increasing the solute concentration in the mucus

water moves out of the cells by osmosis into the mucus

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15
Q

what are the types of errors that could occur during DNA replication

A

substitution

deletion

insertion

duplication

inversion

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16
Q

substitution

A

one bade is substituted for another

17
Q

deletion

A

base is deleted

18
Q

insertion

A

extra base is added

19
Q

duplication

A

one or more bases are repeated

20
Q

inversion

A

sequence of bases is reversed

21
Q

what are the different methods of DNA replication

A

semi-conservative

conservative

22
Q

conservative method

A

original DNA strands stay together and new DNA molecules contain two new strands

23
Q

explain the whole process of Messelson and Stahls experiment

A

bacteria was grown in a nutrient broth containing light nitrogen and one in a broth containing heavy nitrogen. as bacteria reproduced, it took up the nitrogen from the broth to help make nucleotides for new DNA

sample of DNA was taken from each batch of bacteria and spun in a centrifuge where DNA from heavy nitrogen bacteria settles lower down the tube because its heavier

bacteria grown in heavy nitrogen broth was taken and put in a broth containing only light nitrogen. bacteria left for a round of replication and spun in the centrifuge

24
Q

what was the results of the semi conservative experiment

A

new bacterial DNA molecules contained one strand of old DNA containing heavy nitrogen and one strand of new DNA containing light nitrogen

DNA settled between where light nitrogen DNA settled out and where the heavy nitrogen DNA settled out

25
Q

explain the process of DNA replication

A

DNA helicase breaks H bonds between bases on the two polynucleotide DNA strand making the helix unwind forming two single strands.

each original strand acts as a templare for a new strand and complementary bade pairing occurs between free DNA nucleotides and the bases on the strands

condensation reaction joins nucleotides of the new strands together catalysed by DNA polymerase

hydrogen bonds form again so that each new DNA molecule contains one strand from the original DNA molecule and one new strand

26
Q

preimplantation genetic diagnosis

A

screening embryos produced by IVF for genetic disorders before implanted into the woman

27
Q

state two benefits of preimplantation genetic diagnosis

A

reduces the chances of having a baby with a genetic disorder

avoid abortion

28
Q

social and ethical issues of PGD

A

can be used to find out other characteristics leading to concerns that in the future embryos may be selected for other characteristics

false results provide incorrect information

29
Q

name the two prenatal tests

A

amniocentesis and chorionic villus sampling

30
Q

when is chorionic villus sampling carried out

A

11-14 weeks

31
Q

when is amniocentesis carried out

A

15–20 weeks

32
Q

chorionic villus sampling

A

sample of cells taken from placenta containing fetal DNA that could be analysed

done via the abdomen using a fine needle or the vagina using a catheter

initial results available but more in depth can take two or more weeks to arrive

33
Q

risk of miscarriage of CVS

A

1-2%

34
Q

amniocentesis

A

sample of cells taken from amniotic fluid using a fine needle via the abdomen

cells contain foetal cells which contain DNA that can be analysed

results not available until 2-3 weeks after but rapid test with less info available in 3-4 days

35
Q

risk of miscarriage of amniocentesis

A

1%

36
Q

carrier testing

A

offered to individuals with family history of genetic disorders and shows whether people without a disorder carry an allele that can cause a disorder

37
Q

social and ethical issues of carrier testing

A

emotional stress

not 100% accurate

other disorders could be found

insurance companies or employers could used the results (genetic discrimination)