genetics Flashcards

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1
Q

what are genes?

A

the basic physical and functional unit of hereditary

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2
Q

types of genes

A

monogenic and polygenic

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3
Q

what is an allele

A

a copy of a gene; maternal or paternal, an alternative form of a gene

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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 are single nucleotide polymorphisms SNP

A

positions in a gene where more than one base may be present

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6
Q

what are mutations

A

random changes

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7
Q

homologous pair

A

similar chromosomes that have same locus and can work together

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8
Q

types of mutation

A

base substitution, insertion, deletion, inversion

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9
Q

what is that sickle cell anemia caused of?

A

sickle cell anemia occurs due to a base substitution mutation, a mutation in the gene that codes beta-globing polypeptide in hemoglobin. from GAG to GUG, which codes of valine instead of glutamine.

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10
Q

how many chromosome do humans contain?

A

46

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11
Q

what is a genome?

A

the whole of the genetic information of an organism

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12
Q

what was the aim of the human genome project?

A

their aim was to find the base sequence of the entire human genome

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13
Q

what did the human genome project lead to?

A

mapping
screening
ancestry
medicine

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14
Q

what are plasmids?

A

small, circular DNA that is capable of self replication

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15
Q

difference between prokaryotes and eukaryotes

A
prokaryotes: circular DNA
no bound organelles 
naked DNA 
free DNA
contain plasmids
no mitochondria
eukaryotes: linear DNA
organelles
DNA packed with histones
DNA in nucleus 
do not contagion plasmids
have mitochondria
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16
Q

cell size

A

micrometer

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17
Q

centromere

A

a point the divides the chromosome into two

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18
Q

how many types of chromosomes do humans have?

A

23

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19
Q

when can chromosome visible?

A

during mitosis and misers, because they become much shorter and fatter due to supercoiling.

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20
Q

what are homologous chromosomes?

A

chromosomes that contain:
The same structural features (e.g. same size, same banding patterns, same centromere positions)
The same genes at the same loci positions (while the genes are the same, alleles may be different)

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21
Q

sexual reproduction

A

inherit genes from the mother and father, therefore, the organism will contain two copies of a chromosome( maternal and paternal), in which they are homologous chromosomes.

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22
Q

gametes:

A

sex cells, haploid cells n, 1 copy

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23
Q

diploid

A

two chromosomes, 2n

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24
Q

meiosis

A

results in haploid n, 23 chromosomes

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25
Q

mitosis

A

results in 2n, 46 chromosomes

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26
Q

heterosomes

A

sex chromosomes, X AND Y

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27
Q

autosomes

A

rest of the chromosomes from 1-22, do not determine the sex

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28
Q

females heterosomes

A

homologous XX

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29
Q

male heterosomes

A

XY

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30
Q

chromosome Y in males

A

initiates the development of male features, including testosterone. Y codes for TDF

31
Q

karyograms

A

shows the chromosomes of an organism in homologous pairs of decreasing, therefore sex chromosomes are the shortest.

32
Q

what is Down syndrome

A

a condition by which an individual has three copies of a chromosome instead of two
for example trisomy 21.

33
Q

chromosome types

A

metacentric
submetacentric
acrocentric
Telocentric (not in humans)

34
Q

difference between mitosis and meiosis

A
mitosis: 
diploid 
1 division 
PMAT
asexual cell reproduction 
groth and repair
all cells
genetically identical 
no crossing over, bivalents synapsis, or random assortment
meiosis: 
haploid 
2 division
gametes
2PMAT
sexual cell reproduction
crossing over, bivalents synapsis, or random assortment
genetically distinct
35
Q

meiosis

A

a reductional division to form haploid gametes, chromosome are replication once

36
Q

homologous chromosomes

A

aligned in metaphase 1 separated in anaphase 1

37
Q

sister chromatids

A

aligned in metaphase 2 separated in anaphase 2

38
Q

in what phase is DNA replicated

A

interphase S phase (synthesis phase)

39
Q

stages of meiosis

A
prophase 1
metaphase 1
anaphase 1
telophase 1
prophase 2
metaphase 2
anaphase 2
telophase 2
40
Q

bivalents

A

a pair of homologous chromosomes are bivalents and process of pairing is synapsis.

41
Q

crossing over

A

occurs only in p1 allows variation, the outcome of it is a junction is created where one chromatid in each of the homologous chromosomes breaks and rejoice with the other chromatid. crossing over occurs at a chiasmata.

42
Q

random orientation

A

the alignment and pairing on homologous chromosomes in metaphase 1 is random,

43
Q

possible combinations of random orientation

A

possible combinations is 2^n so for humans 2^23= 8million

44
Q

non-disjunction

A

failure of separating at anaphase can lead to Down syndrome

45
Q

what causes variation

A

crossing over
random assortment and orientation
random fusion of gametes

46
Q

chronic villi sampling and amniocentesis

A

chronic is taking a sample from the placental tissue via a tube through the cervix, 1% risk of miscarriage
meanwhile amniocentesis involves the extraction of amniotic fluid with a needle (0.5%) risk of miscarriage.

47
Q

mutations regarding chromosomes

A

somatic: single body cell cannot be inherited
gremline: sex chromosomes inherited

48
Q

Mendel’s conclusions

A

Law of Segregation
Law of Independent Assortment
Principle of Dominance

49
Q

homozygous

A

same alleles

50
Q

heterozygous

A

different alleles

51
Q

dominant

A

allele that is always expressed

52
Q

cystic fibrosis

A

an autosomal recessive disorder caused by a mutation of a gene CFTR on chromosome 7

53
Q

Huntington’s Disease

A

Huntington’s disease is an autosomal dominant disorder caused by a mutation to the Huntingtin (HTT) gene on chromosome

54
Q

sex linked diseases

A

Haemophilia

Red-Green Colour Blindness

55
Q

factors which can induce mutations

A

Radiation
Chemicals
Biological Agents

56
Q

mutagens

A

agents the increase the rate of mutations

57
Q

carcinogens

A

mutagens that lead to cancer

58
Q

types of cancer

A

benign

malignant

59
Q

pedigree charts

A

males=square

females=circle

60
Q

PCR

A

an artificial method to replicate DNA in a laboratory

61
Q

stages of PCR

A

Denaturation – DNA sample is heated to separate it into two single strands (~95ºC for 1 min)
Annealing – DNA primers attach to the 3’ ends of the target sequence (~55ºC for 1 min)
Elongation – A heat-tolerant DNA polymerase (Taq) binds to the primer and copies the strand (~72ºC for 2 min)

62
Q

Gel electrophoresis

A

a laboratory technique used to separate and isolate proteins or DNA fragments based on mass / size

63
Q

DNA profiling

A

a technique by which individuals can be identified and compared via their respective DNA profiles

64
Q

transgenic

A

a new organism that is created by gene modification

65
Q

risks of gmo

A
herbicide resistance
release of toxins
uncontrollable growth
can be spread to non-targeted organisms
cross pollination can lead to super weeds
can limit biodiversity of an environment
foods with gm are not labelled
new traits can adverse health reactions
removal of traits can have an unknown effect
66
Q

clones

A

groups of genetically identical organisms derived from a single original parent cell.

67
Q

Somatic cell nuclear transfer

A

a method by which cloned embryos can be produced using differentiated adult cells

68
Q

natural cloning

A

species that reproduce asexually produce clones

69
Q

Animal Cloning Methods

A

binary fission
budding
fragmentation
parthenogenesis

70
Q

Plant Cloning Methods

A

spores

71
Q

human cloning methods

A

Identical twins (monozygotic)
Non-identical twins (dizygotic)
Identical twins will be clones of one another (genetically identical), while non-identical twins will share 50% of the same

72
Q

differentiated cells to generate cloned embryos can be used for two main purposes:

A

Reproductive cloning

Therapeutic cloning

73
Q

GMO examples

A
BT crops
golden rice
flavr savr tomatoes
glow in the dark animals
aqua advantage salmon
74
Q

recombinants

A

result due to crossing over as they are not identical to the parent cell