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HHP Anatomy > genetics > Flashcards

genetics Flashcards

1
Q

What does a square represent on a family pedigree?

A

Male member of the family

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2
Q

What does a circle represent on a family pedigree?

A

Female member of the family

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3
Q

How are decreased females represented on a family pedigree?

A

A circle with a line through it

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4
Q

How is an affected male represented on a family pedigree?

A

A square that is fully coloured in

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5
Q

How is a female carrier represented on a family pedigree?

A

A circle that is partially shaded in

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6
Q

How is an unaffected male represented on a family pedigree?

A

A square that is unfilled

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7
Q

How are twins represented on a family pedigree?

A

A “triangle line appearance”

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8
Q

What is genetic information in eukaryotic cells carried on?

A

On the chromosomes

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9
Q

How many pairs of chromosomes do humans have?

A

23 Pairs

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10
Q

What are 2 chromosomes in metaphase attached by?

A

A centromere

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11
Q

Define haploid

A

One set of chromosomes

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12
Q

Define diploid

A

Two sets of chromosomes

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13
Q

What is DNA wound around?

A

DNA is wound around histones giving a bead and string like structure

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14
Q

What are nucleosomes?

A

Condensed DNA packed into chromatin fibres

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15
Q

Condensed DNA packed into chromatin fibres are called what?

A

nucleosomes

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16
Q

What are nucleosomes attached to?

A

A scarfords made of proteins

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17
Q

Where is genetic information found in the cell?

A

In the nucleus

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18
Q

What are complimentary DNA strands held together by?

A

Hydrogen bonds on specific nucleotide base pairs

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19
Q

What are the 2 types of nucleobases in DNA called?

A
  1. Purine bases

2. Pyrimidine bases

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20
Q

Name bases are purine?

A

Adeneine

Guanine

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21
Q

Name bases are Pyrimidine?

A

Cytosine
Thymine
Uracil

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22
Q

What are DNA bases attached to?

A

Deoxyribose which has at least 1 phosphate molecule

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23
Q

Define codon

A

3 nucleobases that code for a specific amino acid

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24
Q

Define mutations

A

They are inheritable permanent changes in the base sequence of DNA

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25
Q

What are the different types of mutations?

A
  1. Point mutations

2. Deletion/Insertions

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26
Q

What are point mutations?

A

Mutations that happen in 1 base pair leading to change

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27
Q

What are the 2 types of point mutations?

A
  1. Transition

2. Transverse

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28
Q

What do transition pain mutations do ?

A

They convert G-C bond into A-T

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29
Q

What do Transverse pain mutations do ?

A

They convert G-C bond into T-A

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30
Q

What are Deletion/Insertions mutations?

A

They are the loss or gain of nucleotides that may result in a frame shift in reading genetic code

31
Q

What can the consequence of mutations be?

A
  1. Silent
  2. Missense
  3. Nonsense
32
Q

What are silent mutations?

A

They are when nucleotides change but the amino acid doesn’t

33
Q

When do silent mutations usually occur?

A

In point mutations

34
Q

What are Missense mutations?

A

When the nucleotide changes and so does the amino acid

Leads to a new primary structure

35
Q

What are nonsense mutations?

A

A mutation results in a stop codon resulting in truncated proteins

36
Q

What are truncated proteins?

A

Shortened proteins

37
Q

How do mutations arise?

A
  1. Due to DNA replication fidelity

2. Mutagens

38
Q

What are the 2 types of mutagens?

A
  1. Physical

2. Chemical

39
Q

Give examples of physical mutations

A

Ionising radiation E.G. X-rays

Non-ionising radiation E.G UV lights

40
Q

What does ionising radiation do?

A

Causes strands to break

Sugar or base destruction

41
Q

What does non-ionising radiation do?

A

Causes new chemical bonds to form

42
Q

Give examples of chemical mutagens

A

Base analogues:
Nitrous acid
Alkylating agents

43
Q

What are base analogue mutagens?

A

They are derivatives of normal bases but they can cause altered base pairings

44
Q

What are nitrous acid mutagens?

A

Cytosine turns to uracil causing the C-G bond to become the A-T

45
Q

What are Alkylating agents mutagens?

A

EG Methylmethane sulfate

These cause lesions that result in error prone repair

46
Q

Define allele

A

Different forms of the same genes

47
Q

Define dominent

A

A gene that is preens expressed a certain characteristic

48
Q

Define recessive

A

Only expressed if the dominant allele is absent

49
Q

Define genotype

A

The genetic components

50
Q

Define phenotype

A

The visible appearance

51
Q

Give examples of some monogenic disorders

A

Cystic fibrosis
Sickle cell anaemia
Huntingtons
Amelogenisis imperfecta

52
Q

What causes cystic fibrosis

A

Muttion of the transmembrane condlictane regulator (CFTR)
This gene control export of chlorine ions in the epithelial cells of the airway
Failure of the CFTR leads to a build up of sticky mucus which the bacteria then invade

53
Q

What causes sickle cell anaemia?

A

It is caused by a single base mutation which affects how the beta globin molecules form the structural tetramers that carry oxygen around the body

54
Q

What causes amelogenis imperfecta?

A

Caused by a C->T substitution in the Dentin sialophosphoprotein (DSPP)
It can result in poorly formed dentine resulting in early tooth loss

55
Q

What causes Huntington’s disease?

A

Caused by an increase in the number of repeats of the CAG codon
Normal people have 15 sufferers have 36+
Disease can lead to dementia, depression and involuntary spasms

56
Q

What is the gene dosage effect?

A

When the number of copies of the mutated triplet you have increases the severity of the disease
E.G Huntingtons

57
Q

How can an X links disease easily be spotted?

A

By using a pedigree

If only the males are affected but the father doesn’t have the disease then it is x links

58
Q

Give some examples of X linked diseases?

A
  1. Haemophilia

2. Amelogenesis imperfecta

59
Q

What is Haemophilia?

A

A disorder where blood doesn’t clot properly due to a mutation in the blood clotting gene

60
Q

What is amelogenesis imperfecta

A

Poorly formed tooth enamel which results in stripes teeth due to the alternating pattern of creamy coloured poorly formed enamel and whiter enamel

61
Q

Define multifactorial genetic disorders

A

When many genes are involved in the disease process

62
Q

Give examples of some Muti factorial diseases

A 
Congenital spinal bifida 
Cleft lip and palette 
Congenital heart disease 
Late onset arthritis 
Multiple sclerosis 
Epilepsy 
Psychiatric depression 
Alcoholism 
Alzheimers 
Schizophrenia 
Oral cancer ect 
PERIODONTAL DISEASE
63
Q

Name the 8 ethos we can use to determine gene components

A
  1. Family studies
  2. Twin studies
  3. Linkage analysis
  4. DNA hybridisation
  5. PCR
  6. Nucleotide sequencing
  7. Microarrays and gene chips
  8. Next generation sequencing
64
Q

Why are molecular biology technique important?

A
  1. Gene mutations can have serious consequences
  2. Dental diseases are caused by gene mutations
  3. Molecular bio techniques can hep differentiate between normal and mutated genes
65
Q

What does periodontal disease result in?

A

Results in erosion in tissues supporting teeth

It is now thought ti be caused by an autoimmune disease

66
Q

What is the human genome project and why is it important?

A

Analysing the whole nucleotide sequence for the human genome

Important in comparing ‘normal DNA’ to ‘genetically disordered’ DNA

67
Q

Why is restriction endonucleases important?

A

Useful in adding specific genes to plasmids can recognise a specific sequence and break the Phosphodiester bonds between the nucleotides

68
Q

Describe the process of gel electrophoresis and why it is important

A
  1. Fragments can be separated on the gel according to their weight
  2. Fragments can therefore be compared (by weight)
  3. Polyacrylamide gel  separates low molecular weight fragments
  4. Agarose gel  separates high molecular weight fragments
69
Q

What are plasmids?

A

Plasmids are small circular DNA found in prokaryotes

70
Q

What can plasmids be used for?

A

Extra chromosomal DNA can be added to the plasmid

Plasmids therefor act as a vector in carrying new genes

71
Q

What must a vector be?

A
  1. Must be able to self replicate in host
  2. Must be able to be digested (by restriction endonuclease)
  3. Must posses a selector marker (new gene in the plasmid)
72
Q

Describe the process of gene cloning

A
  1. Same restriction exonuclease used to cut the 2. DNA ligase is used to join 3. Recombinant DNA can now be placed into prokaryotes (that have been made permeable
73
Q

What are the 3 methods we can use to determine the genes responsible for genetic disorders?

A
  1. PCR (modern molecular analysis)
  2. Southern blotting
  3. Sanger method

HHP Anatomy (3 decks)

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