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Year 2 > Normal and abnormal development: genetic, congenital and acquired disease > Flashcards

Normal and abnormal development: genetic, congenital and acquired disease Flashcards

1
Q

When do genetic diseases materialise

A

Early in childhood

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2
Q

Other than environmental and genetic causes of a disease, what else results in a disease

A
  1. Other diseases predisposing you to causative factors
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3
Q

How do other disease pre-dispose you to others

A
  1. Pre-neoplastic conditions (diseases pre-disposing to tumours)
  2. Permissive effect
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4
Q

What is a permissive effect

A

Environmental agents that are not normally pathogenic will cause a disease.

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5
Q

What two ways other than genetic abnormalities can increase disease risk in a baby

A
  1. Nutritional deprivation

2. Transplacental transmission of environmental agents

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6
Q

What four reasons are there for an increase in disease incidence with age

A
  1. Probability of contact with an environmental cause increases with duration of exposure risk
  2. Disease may depend on cumulative effects of one or more environmental agents
  3. Impaired immunity with ageing increases susceptibility of some infections
  4. Latent interval between exposure causes appearance of symptoms to take decades
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7
Q

what are two outcomes of polymorphic variations

A
  1. Changes in characteristics (brown hair vs blond)

2. No visible effects at all (e.g. blood types)

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8
Q

Name three polymorphic variations that give the greatest disease susceptibility to an individual

A
  1. HLA Types
  2. Blood groups
  3. Cytokine genes
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9
Q

What are HLA genes normally referred to as

A

antigens

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10
Q

What are class I antigens

A
  1. Expressed on the surface of all nucleated cells (recognised by immune system)
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11
Q

What are class II antigens

A
  1. Expressed on the surface of cells that interact with T lymphocytes by physical contact - initiate immune response
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12
Q

Two ways diseases may be associated with HLA types

A
  1. Infective microbes may have similar antigens to host cells
  2. Gene predisposing to a disease is closely linked to HLA gene
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13
Q

What HLA group is found on organs/cells that are subjected to autoimmune attacks

A
  1. Express class II types
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14
Q

What two diseases are closely related to blood groups

A
  1. Duodenal ulceration - group O

2. Gastric carcinoma - group A

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15
Q

How many gene tend to be involved in most inherited abnormalities

A

A single gene - these conditions are monogenic

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16
Q

How many base pairs are found in each of the 23 pairs of chromosomes

A

10^7 base pairs

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17
Q

Describe the structure of DNA

A
  1. Wrapped as a double-helix around histone proteins - nucleosomes
  2. DNA strands then coiled to form a chromatin fibre
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18
Q

How many pairs of chromosomes are called autosomes

A

22

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19
Q

What proportion of nuclear DNA encodes for functional genes

A

10%

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20
Q

What is the role of ‘satellite’ DNA

A

Maintains chromosome structure

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21
Q

Where are telomeres located

A

Found on the ends of each chromosome

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22
Q

Role of telomeres

A

Needed for chromosomal replication

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23
Q

What happens to the DNA when there is a lack of telomerase

A

The telomeres shorten with each mitotic division until the cell is incapable for further replication

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24
Q

define a centrimorgan

A

the distance between two gene loci

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25
Q

How does the process of gene linkage and recombination show

A

allows defective genes to be identified by tracking inheritance of neighbouring DNA in affected individuals and families

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26
Q

How many base pairs are found in the homeobox genes

A

183 base-pairs

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27
Q

What two ways are HOX genes controlled by

A
  1. Endocrine regulation

2. Vitamin A

28
Q

Mitochondrial DNA vs nuclear DNA

A
  1. Circular double-stranded conformation
  2. High rate of spontaneous mutation
  3. Few introns
  4. Maternal inheritance

looks liked bacterial dna

29
Q

Why are mitochondria derived from the cytoplasm of mother’s ovum

A
  1. The head of the fertilising spermatozoon consists of the entire nucleus
30
Q

What gender will mitochondrial disorders effect the most

A

Male and females equally

31
Q

What do genes in mitochondrial DNA encode for

A

Enzymes in oxidative phosphorylation

32
Q

What would mitochondrial defects tend to effect

A

tissues with high energy requirements like neurones and muscle cells

33
Q

Define alleles

A

Two genes at an identical place on a parr of chromosomes

34
Q

Define heterozygous

A

Allele at a particular locus are different

35
Q

In what genotype are recessive genes expressed in

A

Homozygous

36
Q

Define karyotype

A

The chromosomal constitution of a cell or individual

37
Q

What colour can we use to see the 46 chromosomes in human nuclei more clearly

A

Colchicine

38
Q

How does Colchicine allow the 46 chromosomes show up

A

Inhibits polymerisation of tubulin, preventing formation of the mitotic spindle along which the chromosomes migrate and block cell division in metaphase.

39
Q

How does counting the 46 chromosomes help with abnormal chromosomes

A

SHOW ABNORMAL NUMBERS OF CHROMOSOMES (TRISOMY)

40
Q

How often do random polymorphic variations occur in nuclear DNA

A

1 in 200 base pairs

41
Q

In what two ways can polymorphic variation arise

A
  1. Substitution of a single base on the DNA strand

2. Presence of variable numbers of tandem repeats of base sequences

42
Q

How are variations in DNA detected

A

By determining variations in size of DNA fragments collected

43
Q

What is the PCR technique

A
  1. Primers bind to complementary base pairs on the DNA template strands
  2. DAM polymerase amplifies DNA fragment
  3. High temperature to separate DNA strands
  4. free nucleotides incorporate not newly synthesised DNA segments.
44
Q

What two disorders can single gene defects cause

A
  1. Structural

2. Metabolic

45
Q

What genotype do you need to have inherited a single gene defect that results in biochemical abnormalities

46
Q

What genotype do you need to have inherited for a single gene defect that results in structural abnormalities

47
Q

What four ways can result in a single gene defect

A
  1. Deletion of a gene
  2. Point mutation (substitution of a nucleotide)
  3. Insertion/Deletion
  4. Translocation
48
Q

What are the main three outcomes of a genetic alteration

A
  1. Loss of function
  2. Gain of function
  3. Lethal
49
Q

Define toxicology

A

Study of environmental chemicals that cause disease

50
Q

What is the effect of acid/peroxides on tissues

A
  1. Digest or denature proteins
  2. Damage structural integrity of the tissue
  3. Necrotic effect on skin cells
51
Q

How do chemicals cause disease metabolically

A

They can interrupt the metabolic pathway

52
Q

How can chemical agents effect DNA

A

Can cause genetic mutations (mutagens)

  1. Teratogenic
  2. Carcinogenic
53
Q

Define teratogenic

A

chemical agents effect embryogenesis leading to congenital malformations

54
Q

How can small molecules act as haptens in the body

A

They are too small to act as an antigen but accomplish this by binding to a larger molecule

55
Q

What part of a cigarette causes cancer

A

The carcinogens (hydrocarbons) in the smoke can cause tumours + carbon monoxide

56
Q

Define trauma

A

Mechanical injury to tissues

57
Q

Define pyrexia

A

Increased body temperature

58
Q

Where is pyrexia mediated

A

Interleukins on the hypothalamus

59
Q

Why is local heating of the skin dangerous

A

Coagulates proteins and disrupts structure and function of cells

60
Q

Define these terms:
First degree burns
Second degree burns
Third degree burns

A
  1. Skin redness
  2. Epidermal necrosis and blistering of skin
  3. Epidermal and dermal necrosis
61
Q

How is thermal injury useful in clinical environments

A

Can be used to coagulate tissues and stop bleeding

62
Q

Define a congenital disease

A

Present at birth

63
Q

Define inherited disease

A

Caused by inherited genetic abnormality

64
Q

Define acquired disease

A

By non-genetic environmental factors

65
Q

Define hypertrophy

A

Increase in size of tissue caused by an increase size of the constituent cells

66
Q

Define hyperplasia

A

Increase in size of tissue caused by an increase in NUMBER of constituent cells

Year 2 (155 decks)

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