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AY Principles > Genetics > Flashcards

Genetics Flashcards

1
Q

What happens in mitosis?

A

1 diploid parent cell –> 2 identical diploid daughter cells

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2
Q

What happen in meiosis?

A

1 diploid parent cell –> 4 haploid daughter cells

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3
Q

What is a polymorphism?

A

Any variation in the human genome that has a population frequency of greater than 1% (does not cause disease in its own right)

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4
Q

What does aneuploidy mean?

A

Whole extra or missing chromosome

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5
Q

What is translocation?

A

Rearrangement of chromosomes

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6
Q

What is Down’s syndrome?

A

Extra chromosome 21

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7
Q

What are the chances of a woman who already has a child with Down’s syndrome having another?

A

1%

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8
Q

What are the stages of the cell cycle?

A

G1 - cell grows in prep for DNA replication
S - DNA replication
G2 - make sure DNA replication occurred properly
M - mitosis - cell division

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9
Q

What is trisomy 18 called?

A

Edwards syndrome

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10
Q

What is trisomy 13 called?

A

Patau syndrome

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11
Q

What is 47XXY called?

A

Klinefelter syndrome

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12
Q

2 main types of translocation

A

Balanced

Unbalanced

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13
Q

What is robertsonian translocation?

A

An entire chromosome has attached to another at the centromere

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14
Q

What is a reciprocal translocation?

A

Where segments from 2 different chromosomes have been exchanged

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15
Q

Syndromes caused by deletion

A

DiGeorge’s syndrome
William’s syndrome
Cri du chat syndrome

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16
Q

What is amniocentesis?

A

Needle used to obtain sample from unborn child in utero

17
Q

Treatment for Philadelphia chromosome?

A

Tyrosine kinase inhibitor: imatinib

18
Q

What does autosomal dominant mean?

A

1 faulty copy of gene causes disease

50% risk

19
Q

What does autosomal recessive mean?

A

2 faulty copies of the gene are needed to cause disease

25% risk if parents are carriers

20
Q

What does x linked mean?

A

Disease carried on X chromosome
Female carrier - 1/2 male kids affected, 1/2 female kids carriers
Make affected - male kids normal, female kids carriers

21
Q

What does mitochondrial inheritance mean?

A

Mitochondria always come from mother

22
Q

What are single nucleotide polymorphisms?

A

Any variation in the human genome that does not cause a disease in its own right but may predispose to a common disease

23
Q

What are copy number variations?

A

Extra or missing stretches of DJA

24
Q

What is penetrance?

A

The likelihood of having the disease if you have the mutation

25
Q

What is expression?

A

The variation in disease severity if you have the mutation

26
Q

What is mosaicism?

A

When different cells have a different genetic constitution within one individual

27
Q

When does somatic mosaicism occur?

A

When the somatic cells of the badly are of more than one genotype

28
Q

What is gonadal mosaicism?

A

A special form of mosaicism where some gametes (i.e. Either sperm or oocytes) carry a mutation but the rest are normal

29
Q

3 outcomes if the cell cycle is arrested

A

DNA repair
Apoptosis
Cancer

30
Q

What is DNA methylation?

A

Epicene tic mechanism that cells use to control gene expression

31
Q

What is Angelman’s syndrome?

A

Neuro genetic disorder

32
Q

What is myotonic dystrophy?,

A

I a chronic, slow progressing, inherited multi systemic disease

33
Q

Clinical features of myotonic dystrophy

A 
Muscular dystrophy
Cataracts 
Heart conduction defects 
Endocrine changes
Myotonia (slow relaxation of muscles after contraction)
34
Q

What is huntingtons disease?

A

Neurodegenerative genetic disorder that afters muscle coordination and leads to cognitive decline and psychiatric problems

35
Q

What is anticipation?

A

Where disease symptoms become more severe from generation to generation and may become onset at a much earlier age

36
Q

What is heteroplasmy?

A

Different daughter cells contain different proportions of mutant mitochondria (similar to mosaicism)

37
Q

What are the symptoms of mitochondrial disease?

A 
Myopathy
Diabetes 
Deafness
Optic atrophy
Stroke-like episodes 
Encephalitis (inflammation of the brain)
38
Q

4 methods by which oncogenes are activated?

A

Duplication of the gene
Activation of the gene promoter
Change in amino acid sequence
Phosphorylation of the gene

AY Principles (11 decks)

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