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Year 1 Semester 2 > Genetics > Flashcards

Genetics Flashcards

1
Q

What are some essential features of cell division

A
  • Faithfully replicate genetic material

- Accurately segregate into daughter cells

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2
Q

How long does it take to replicate the human genome?

A

8 hours

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3
Q

How long does it take to segregate the replicated genome?

A

2 hours

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3
Q

How long does it take to segregate the replicated genome?

A

2 hours

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4
Q

How is the cell division cycle controlled?

A

Cyclin dependent kinases

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5
Q

What is down syndrome?

A

A genetic disorder that involves having 3 copies of chromosome 21

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6
Q

What happens if there is a promotor or splice site sequence change?

A

Stop transcription or cause abnormal splicing

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7
Q

What could happen if there is a base change within a gene?

A
  • Change in protein sequence
  • Not every base change causes disease
  • May or may not reduce protein function
  • Some missense mutations make a protein work faster
  • May cause a premature stop codon
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8
Q

What could happen if there is an insertion or deletion of bases in a gene?

A

Frame shifts possible so mutations can be in frame or out of frame

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9
Q

Describe disorders with mendelian inheritance

A

A change in a single gene, sufficient to cause clinical disease, is inherited in a fashion predicted by Mendel’s law

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10
Q

What shape represents males in inheritance diagrams?

A

Square

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11
Q

What shape represents females in inheritance diagrams?

A

Circle

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12
Q

What is nonpenetrance?

A

Failure of a genotype to manifest

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13
Q

Describe mitochondrial DNA

A
  • 16,559 base pairs
  • Many copies in a cell (because of many mitochondria)
  • Contains important genes for mitochondrial metabolic pathways and ribosomal RNAs
  • Inherited almost exclusively maternally
  • Point mutations and deletions occur
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14
Q

What are some different types of growth?

A
  • Multiplicative/replicative growth - cell replication
  • Auxetic growth - cell size increase
  • Accretionary growth - extracellular space increases
  • Combined pattern of growth
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15
Q

Define hyperplasia

A

Increase in number of cells

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16
Q

Define hypertrophy

A

Increased cell size

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17
Q

What term is used to describe decreased/regressed growth?

A

Atrophy

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18
Q

What factors can be underlying causes for systemic growth disorders?

A
  • Hormones and growth factors
  • Genetics
  • Nutrition
  • Environmental factors
  • Secondary effects of disease
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19
Q

Describe turner’s syndrome

A
  • 45 chromosomes
  • Missing X chromosome
  • Female
  • Very short
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20
Q

Describe Beckwith-Wiedemann syndrome

A
  • Inheriting two copies of a chromosome from one (paternal) parent and none from the other is bad news
  • Increased expression of IGF-II
  • Decreased expression of H19
  • Overgrowth in early childhood
21
Q

What factors influence differentiation?

A
  • Location
  • Growth factors
  • Hormones
  • Adjacent cells
  • Autocrine factors
22
Q

What is metaplasia?

A
  • Change of differentiated cell type
  • Response altered cellular environment
  • Often epithelial or mesenchymal cells
23
Q

Describe dysplasia

A
  • Increased cell proliferation
  • Atypical morphology
  • Decreased differentiation
  • Often premalignant
24
Q

Describe neoplasia

A
  • Abnormal uncoordinated excessive cell proliferation

- Persists after initiating stimulus withdrawn

25
Q

What is agenesis?

A

Failure to develop an organ or structure

26
Q

What is atresia?

A

Failure to develop a lumen

27
Q

What is hypoplasia?

A

Failure of an organ to develop to a normal size - may only apply to a segment of an organ

28
Q

What is ectopia/heterotopia?

A

Small areas of mature tissue from one organ present in another

29
Q

What is maldifferentiation?

A
  • Failure of normal differentiation

- Persistence of primitive embryological features

30
Q

How is a chromosome recognised?

A
  • Banding pattern with specific stains
  • Length
  • Position of centromere
31
Q

What is a key feature of acrocentric chromosomes?

A

The short arm doesn’t really matter

32
Q

Which chromosomes are acrocentric?

A

13, 14, 15, 21, 22

33
Q

What are aneuploidies?

A

Whole extra or missing chromosomes

34
Q

What are translocations?

A

Rearrangement of chromosomes

35
Q

What is another name for down syndrome?

A

Trisomy 21

36
Q

What is another name for Edward syndrome?

A

Trisomy 18

37
Q

What is another name for Patau syndrome?

A

Trisomy 13

38
Q

What is robertsonian translocation?

A

Two acrocentric chromosomes stuck end to end

39
Q

What are the reproductive risks involved in reciprocal translocations?

A
  • For most translocations, ~50% of conceptions will have either normal chromosomes or the balanced translocation
  • Unbalanced products result in: miscarriage (large segments) or dysmorphic delayed child (small segments)
40
Q

Which chromosomes are involved in the production of a philadelphia chromosome?

A

9 and 22

41
Q

What are the 3 single chromosome mutations?

A
  • Deletion
  • Duplication
  • Inversion
42
Q

What is quantitative inheritance?

A

Complex disorder & continuous traits are influenced by multiple genes and multiple environmental factors

43
Q

Describe the threshold model

A

For a discontinuous phenotype with an underlying continuous distribution, a threshold exists above which the abnormal phenotype is expressed. Population incidence is the proportion beyond the threshold in the general population. Among relatives, the proportion beyond the threshold is the familial incidence

44
Q

Describe heritability

A
  • Heritability of a trait or disease is the proportion of the total variance that is genetic
  • The overall variance of the phenotype is the sum of the environmental and genetic variance
  • Heritability provides information on the importance of genetic factors in the causation of the disease
45
Q

Describe disease causing mutations

A

A gene change that causes a genetic disorder

46
Q

What is synonymous polymorphism?

A

Changes DNA sequence but not the amino acid or subsequent protein produced

47
Q

What is non-synonymous missense polymorphism?

A

Changes DNA sequence and the amino acid and protein produced

48
Q

What is non-synonymous nonsense polymorphism?

A

Changes DNA sequence to code a premature stop codon

49
Q

What are two possible definitions of polymorphism?

A
  • Any variation in the human genome that has a population frequency of greater than 1%
  • Any variation in the human genome that does not cause a disease in its own right. It may however, predispose to a common disease
50
Q

What percentage of genes do different types of twins share?

A

Monozygotic - 100%

Dizygotic - 50%

Year 1 Semester 2 (26 decks)

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