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S2 Case 3 - asthma & COPD > Molecular Genetics > Flashcards

Molecular Genetics Flashcards

1
Q

What are chromosomes 1-22?

A

Autosomes

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2
Q

What is the 23rd chromosome pair?

A

Sex chromosomes

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3
Q

What are males?

A

XY

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4
Q

What are females?

A

XX

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5
Q

What are alleles?

A

Different forms of one gene

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6
Q

What are allotypes?

A

Different forms of one protein

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7
Q

What is polymorphic?

A

Alternative forms of one gene = many alleles

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8
Q

What is oligomorphic?

A

Few forms of one gene = few alleles

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9
Q

What is monomorphic?

A

No polymorphism

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10
Q

What is homozygous?

A

Same allele on both inherited chromosomes

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11
Q

What is heterozygous?

A

Different allele on both inherited chromosomes

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12
Q

Describe mitosis

A

Division of somatic cells
2 daughter cells from 1 parent cell

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13
Q

What does not change in mitosis?

A

No. of chromosomes

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14
Q

When does the DNA duplicate in mitosis?

A

Before entering mitosis

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15
Q

Describe meiosis

A

Division of germline cells
Only in gamete formation
1 diploidic cell produces 4 haploid gametocytes

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16
Q

How many chromosome do cells have in mitosis?

A

46 chromosomes (2n)

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17
Q

How many chromosome do cells have in meiosis?

A

23 chromosomes (n)

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18
Q

What is a mutation?

A

Change in genetic material

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19
Q

What are the basic types of DNA mutation?

A

Missense mutation = different amino acid
Nonsense mutation = chunkated protein
Frameshift mutation

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20
Q

What are the classes of genetic diseases?

A

Chromosomal disorders
Monogenic disorders
Multifactorial disorders
Polygenic disorder
Somatic disorders
Mitochondrial disorders

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21
Q

What is an example of a chromosomal disorder?

A

Down syndrome

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22
Q

What is an example of monogenic chromosomal disorder?

A

Cystic fibrosis
Sickle cell anaemia
Haemophilia A

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23
Q

What is an example of multifactorial disorder?

A

Ischemic heart disease

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24
Q

What are monogenic (single gene) disorders caused by?

A

Change in just one or both copies of particular pair of genes

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25
Q

What is autosomal dominant?

A

One chromosome affected
(heterozygote)

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26
Q

What is autosomal recessive?

A

Both chromosomes affected
(homozygous)

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27
Q

What is X-linked?

A

Mutation on X chromosome

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28
Q

What are examples of autosomal dominant inheritance?

A

Huntington disease
Marfan syndrome

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29
Q

For it to be autosomal recessive what must happen?

A

BOTH parents need to be a carrier

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30
Q

What are examples of autosomal recessive disorder?

A

Sickle cell disease
CF
Spinal muscular atrophy

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31
Q

If you’re a carrier of sickle cell disease, what will happen?

A

Small changes in haemoglobin shape
BUT doesn’t effect O take up

32
Q

Describe autosomal dominant

A

Heterozygote (Aa) or homozygote (AA)
Least 1 affected parent

33
Q

Describe autosomal dominant: achondroplasia

A

Change in transmembrane domain of FGFR3

34
Q

What is FGFR3 involved in?

A

Cartilage to bone transition

35
Q

What does achondroplasia do?

A

Inhibits bone growth

36
Q

Describe autosomal recessive

A

Very rare
Homozygote (aa)

37
Q

Describe autosomal recessive: sickle cell anaemia

A

Single nucleotide substitution

38
Q

What happens to haemoglobin in patients with sickle cell anaemia?

A

Hb polymerises under low O
=distorts RBC shape
= affects O transport

39
Q

What is the vaso-occlusive/pain crisis?

A

Distorted RBC shape
= gets stuck
= blocks blood vessel
= pain

40
Q

What is dactylitis?

A

Painful swelling of hands + feet which occurs in infants

41
Q

Describe autosomal recessive: CF

A

Mutation in CFTR gene

42
Q

What is it if 2 affected people have an unaffected child?

A

Dominant pedigree
Aa = parents
aa = child

43
Q

What is it if 2 unaffected people have an affected child?

A

Recessive pedigree
Aa= parents
aa = child

44
Q

What are examples of X-linked recessive?

A

Haemophilia
Fragile X syndrome

45
Q

Describe X-linked recessive

A

Acts as recessive traits in females (XX)
Dominant traits in males (XY)

46
Q

Describe X-linked recessive: haemophilia

A

B = deficiency factor IX
A = deficiency factor VIII
Inversion mutation

47
Q

What is an inversion mutation?

A

Genetic sequence flipped after duplication

48
Q

What are the management of haemophilia?

A

Joint immobilisation + physical therapy
COX-2 inhibitors

49
Q

Describe X-linked dominant

A

BOTH male + female affected

50
Q

What is an example of X-linked dominant?

A

Rett syndrome

51
Q

Describe Rett syndrome

A

X-linked MECP2
Loss of language, cognitive + motor abilities

52
Q

Describe Y-linked dominant

A

Very rare = sex-linked
Mutations on Y chromosome

53
Q

Describe mitochondrial inheritance

A

Mitochondrial DNA inherited only through egg

54
Q

What is polygenic inheritance?

A

Trait coded by a number of altered + unaltered genes working together

55
Q

What are examples of polygenic inheritance?

A

Alzheimer’s
Diabetes
Cancer
Eczema

56
Q

What are examples of congenital malformations of multifactorial disorders?

A

Cleft lip
Heart defects

57
Q

What are examples of adult onset disorders of multifactorial disorders?

A

Diabetes
Epilepsy
Hypertension
Ischaemic HD
Glaucoma

58
Q

What are numerical chromosome abnormalities?

A

Gain or loss of complete chromosomes

59
Q

What is the common cause of numerical chromosome abnormalities?

A

Non-disjunction

60
Q

What are the chromosome aberrations?

A

Deletion
Translocation
Inversion

61
Q

What is translocation?

A

Section shifts from one chromosome to another

62
Q

What is inversion?

A

Section gets snipped off + reinserted the wrong way around

63
Q

What is a terminal deletion?

A

Removed off end

64
Q

What is an interstitial deletion?

A

Deleted from the middle

65
Q

What is autosomal trisomy?

A

When a chromosome has an extra copy

66
Q

Describe autosomal trisomy: down syndrome

A

Trisomy 21

67
Q

Describe autosomal trisomy: Edwards syndrome

A

Trisomy 18
Multiple malformations
90% die before 5 months

68
Q

Describe autosomal trisomy: Patau syndrome

A

Trisomy 13
Multiple malformations
Most die few weeks after birth

69
Q

Describe anomalies of sex chromosome number: klinefelter syndrome

A

XXY
Males
Infertility = do NOT produce sperm

70
Q

Describe anomalies of sex chromosome number: Turner syndrome

A

X
Females

71
Q

What are the possible treatment for genetic diseases?

A

Correct metabolic consequences
Replace absent enzyme
Remove excess stored product
Correct basic genetic abnormality

72
Q

What are the different types of gene therapy?

A

Replacement
Correction
Augmentation

73
Q

What is replacement gene therapy?

A

Mutant gene removed + replaced with a normal gene

74
Q

What is correction gene therapy?

A

Mutated area of affected gene would be corrected + remainder left unchanged

75
Q

What is augmentation gene therapy?

A

Introduction of foreign genetic material into cell to compensate for defective product of mutant gene

S2 Case 3 - asthma & COPD (25 decks)

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