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IB Higher Bio > Genetics > Flashcards

Genetics Flashcards

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Biology 101 flashcards
1
Q

what is a gene

A
  • a section of DNA that codes for a particular protein

- a heritable factor that controls specific characteristics

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2
Q

What is an allele

A

an alternative version of the same gene

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3
Q

what is a chromosome

A

wound up DNA contained in the nucleus

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4
Q

what is the locus

A

the specific position of a gene on a chromosome

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5
Q

what is sickle cell anemia

A

a mutation that changes the shape of you RBC to have a sickle shape

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6
Q

why is sickle cell anemia a heterozygous advantage

A
  • carrier’s with sickle cell anemia will be immune to malaria
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7
Q

what causes SCA

A
  • genetic conditions; affects minority

- homozygous recessive disease

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8
Q

what type of mutation is SCA

A

a singe base substitution mutation where glutamic acid is changed for valine

GAG -> GTG

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9
Q

how does SCA affect the RBC

A
  • causes them to become sticky and sickle shaped (changes the shape of the hemoglobin)
  • dont transport oxygen properly
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10
Q

what is the genome

A

all the genetic information of your body

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11
Q

what is the purpose of the human genome project

A
  • to catalog the entire human genome

- to identify all the 20000-25000 genes in human DNA

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12
Q

What are the uses of the HGP

A
  • drug discoveries
  • mutation preventions
  • illuminate fundamental functions of the body
  • bio tech
  • risk assessment
  • causes of diseases
  • reduce animal testing
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13
Q

Issues with the HGP

A
  • privacy and fairness in use
  • clinical integration in new genetic tech
  • genetic research and commercialization
  • education of public
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14
Q

what is cystic fibrosis

A

a disease of the lungs + digestive system

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15
Q

effects of cystic fibrosis

A
  • very thick music is produced that blocks the airways and intestines
  • patients have difficulty breathing and absorbing food
  • infections can easily set in
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16
Q

what causes cystic fibrosis

A
  • inheritable disease

- recessive disorder

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17
Q

mutation in cystic fibrosis

A
  • deletion mutation
  • phenylaline is deleted
  • CFTR gene is affected: chanel for the movement of chloride ions in and out of cells, which maintain the balance of salt and water
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18
Q

what is a mutation

A

a randome, rare change in genetic material

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19
Q

can mutations be good

A
  • yes, if it provides an individual/species with a better chance for survival, it is beneficial
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20
Q

symptoms of sickle cell anemia

A
  • fatigue
  • shortness of breath
  • weakness
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21
Q

differences in prokaryotic and eukaryotic DNA

A

PROKARYOTIC:

  • free in cytoplasm
  • plasmid DNA
  • no membrane

EURKARYOTIC:

  • membrane-bound
  • associated with histones/proteins
  • in nucleus
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22
Q

what is a karyogram

A

a pictorial representation of chromosomes

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23
Q

how many pairs of chromosomes

A

23 pairs, 46 chromosomes in total

- one pair of sex chromosomes (determine sex. X and Y)

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24
Q

what are non-sex chromosomes called

A

autosomes

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25
Q

what was the key experiment that MENDEl performed

A
  • pea plant heredity experiment where he crossed yellow and green seeds
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26
Q

what does dominant mean

A
  • expression of phenotype, expressed in homozygous and heterozygous form
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27
Q

what does recessive mean

A
  • carriers of phenotype, phenotype is only expressed in homozygous form
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28
Q

what is the genotype

A

the combination of genes

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29
Q

what are homologous chromosomes

A

Homologous chromosomes are chromosomes of the same size and similar structure. In their structure homologous chromosomes have the same genes as each other in the same sequence but do not necessarily have the same allele of those genes.

30
Q

wat is an antenatal test

A
  • genetic test that can be performed on a fetus while it is still in the mothers uterus, to allow people to make informed decisions about their lives
  • TESTS HAVE A SMALL RISK OF HARM, ESPECIALLY TOWARDS OLDER WOMEN
31
Q

what is amniocentisis

A
  • when amniotic fluid is taken in the second trimester
  • prenatal test
  • 1 in 100 result in miscarriage
32
Q

process of amniocentisis

A
    1. ultrasound
      1. anaestia
      2. amniocnentisis needle through abdominal wall into uterus into the amniotic sac
33
Q

what is chorionic villus testing

A
  • higher chance of miscarriage

- you can do it earlier on

34
Q

what is the genotype

A

symbolic representation of the pair of alleles possessed by an organism

35
Q

phenotype

A

the characteristics/traits of an organism

36
Q

domainant allele

A

an allele that has the same effect on the phenotype whether it is paired with the same allele or a different one. They are always expressed in the phenotype

37
Q

ressessive allele

A

an allelle that has no effect on the phenotype, unless present in homozygous state

38
Q

what are co dominant alleles

A

pairs of allies that both affect the phenotype when present in a heterozygote

39
Q

what is a carrier

A

an individual who has a recessive allele of a gene that does not affect the phenotype

40
Q

what are histones

A
  • small basic proteins, with a positive charge (so they can bind to negative DNA)
  • five types
41
Q

what is a nucleosome

A

DNA wound around a histone, represented by 150 base pairs of DNA

42
Q

what does a chromosome consist of

A

DNA wound around a histone

43
Q

what is Caims Technique

A
  • measures the length of DNA
  • proves semi conservative replication
  • levels the DNA using radioactive hydrogen isotopes which then appear on a film (Autoradiography)
44
Q

co dominance

A

Co-dominant alleles
• Not all alleles are dominant or recessive;
• Some alleles are equally strong and don’t mask one another
• Co-dominant alleles both affect the phenotype when present in a heterozygote

45
Q

example of co dominance

A

blood groups are an example of multiple alleles and co dominance

46
Q

types of alleles in blood

A

A, B and O

47
Q

group A and B

A

encode for two different enzymes that produce different surface moleucles

48
Q

group O

A

is defective, does for an enzyme that isn’t function/doesnt produce surface molecules

49
Q

what are antigens

A

surface molecules that work with the immune system to ensure that there is no blood transfusion

50
Q

what is glutination

A

when the wrong blood is given to the wrong recipients, thus causing the body to attack itself using antibodies

51
Q

why is O- a universal donor

A

it does not have any antigens or rHD proteins, allowing for it to be compatible with most blood types, as the recipient antibodies won’t attack it

52
Q

why is AB a universal reciever

A
  • because it has all the surface molecules needed
53
Q

what is sex linkage

A

when a phenotype of a gene is carried by a sex chromosome

54
Q

what is down syndrome

A

“Triosomy 21” is when there is a problem in MEOISIS, where the 21st chromosome has an extra chromosome
- people with down syndrome have 47 chromsomes

55
Q

example of sex linked disease

A

haemophilia and color blindness

56
Q

what is a pedigree chart

A

a chart of genetic history to deduce the genotypes + phenotypes of individuals

57
Q

what is the polymerase chain reaction

A

-vitro method amplificiation of DNA (duplication)

58
Q

use of PCR

A
  • diagnose diseases
  • identify bacteria and virus
  • forensics and criminology
  • paternity testing
59
Q

what is a primer

A

a short piece of DNA made artificially

- 2 primers are used to match the segment of desired DNA (complimentary base pairing)

60
Q

what is DNA polymeras

A

a protein which copies DNA before it divides, bumps into primer and attaches nucleotides

61
Q

what are nucleotides

A

the building blocks of DNA

62
Q

Steps of PCR

A

Denaturation: Annealing:
Extension:
1st step: PCR
Temperature raised to separate the two DNA strands (> 900C)

Primers allowed to anneal as temperature drops (around 500C)

DNA polymerase elongates new strands of DNA (720C)

63
Q

what is gel electrophoresis

A
  • technique used to separate fragments of DNA by size in order to identify its origin
  • enzymes chop DNA into varying fragments
  • DNA fragments placed into small wells in the gel, aligned at one end
  • gel is exposed to an electric current, positive at the other side so it can attract the negative DNA
  • the biggest, heaviest and least charged particles to not move easily through the gel, whereas the small ones move quickly
64
Q

what is reproductive cloning

A

its used to create an animal that has the same nuclear DNA as another animal

65
Q

somatic cell nuclear transfer

A
  • nucleus is removed from a somatic cell of the animal to be cloned
  • it is placed in an enucleate egg cell
  • chemical and electrical treatment stimulates the cell to undergo mitosis, and an embryo grows
  • this is placed into the futures of the host animal until is its born
66
Q

are clones always identical

A

no, because genes are not the only factor that affects how an organism looks

e. g. ENVIRONMENT!
- also the clones are not 100% genetically identical because the egg cell contains mitochondrial DNA from the donor

67
Q

applications of cloning

A
  • produce prize farm animals
  • pets can be reckoned
  • bring extinct animals back
68
Q

clones in nature?

A

identical twins; splitting of the embryo

69
Q

Ethical issues around cloning

A
  • plauing god
  • unatural
  • religeous
70
Q

types of cloning

A
  • therapeutic

- reproductive

71
Q

aims of cloning research

A
  • skin to repair a serious burn
  • new heart muscle
  • new kidney tissue

IB Higher Bio (21 decks)

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