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Genetics and Human Disease > Genetics Refresher > Flashcards

Genetics Refresher Flashcards

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1
Q

What determines the individual’s risk for a disease?

A

The interactions between genetic risk factors (predisposition) and environmental risk factors.

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2
Q

Define a TRAIT.

A

Describes a characteristic BUT also used to describe a group of symptoms of a disease or disorder.

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3
Q

Define a DISEASE.

A

Refers to an illness which produces specific symptoms or affects a specific body function/structure.

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4
Q

Define a DISORDER.

A

Disruption to regular bodily structure/function usually causing a disease.

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5
Q

Define a CONDITION.

A

An abnormal state of health that interferes with normal wellbeing.

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6
Q

Define a SYNDROME.

A

A collection of symptoms associated with a specific disease (usually affect multiple organs).

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7
Q

Define a COMPLEX DISEASE.

A

A disease where one or more alleles, acting alone or in concert increase or reduce the risk of developing a trait.

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8
Q

What kinds of alterations can genetic disorders make?

A

1 gene

Multiple genes.

Chromosomes.

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9
Q

What types of genetic disorders are there?

A

Monogenic (mendelian) disorders.

Polygenic (multifactorial) complex disorders.

Chromosomal disorders.

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10
Q

What are monogenic (mendelian) disorders?

A

Mutations which occur due to singular gene mutation which can be transferred from parent to offspring.

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11
Q

What are some examples of monogenic/mendelian disorders?

A

Cystic fibrosis

Sickle cell anaemia

Some cancers

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12
Q

What are polygenic (multifactorial) complex disorders?

A

Common disorders which occur due to multiple risk alleles along with environmental risk increasing risk.

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13
Q

What are some examples of polygenetic (multifactorial) complex disorders?

A

Most cancers

Type 2 Diabetes

Cardiovascular Disease

Arthritis

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14
Q

What are chromosomal disorders?

A

Very rare diseases which are caused by a structural or numerical abnormality on the chromosome.

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15
Q

When does the risk of chromosomal disorders increase?

A

When the mother gets older.

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16
Q

What kinds of disorders are chromosomal?

A

Trisomy (3 types of a chromosome rather than 2)

Monosomy ( 1Chromosome rather than 2)

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17
Q

What does DE NOVO mean?

A

Not inherited, occurring new inside the body.

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18
Q

What kind of disorders are cancer?

A

Mostly complex diseases and may also involve de novo/somatic mutations.

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19
Q

What are mitochondrial disorders?

A

Very rare disorder caused by mutations in mitochondrial DNA or nuclear DNA.

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20
Q

What are chromosome abnormalities?

A

Changes resulting in visible alteration of the chromosomes.

An abnormality produced by chromosomal mechanisms.

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20
Q

What happens when a chromosomal abnormality occurs in a gamete cells?

A

Results in constitutional abnormalities which affect all cells.

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21
Q

What happens when chromosomal abnormalities occur later in life?

A

Results in somatic abnormalities (not all cells) which results in mosaicism.

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22
Q

What types of chromosome abnormalities are there?

A

Numerical or Structual.

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23
Q

What kinds of numerical chromosome abnormalities exist?

A

Triploid

Aneuploidy

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24
Q

What is triploid?

A

Containing homologous sets of chromosomes, it is lethal.

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25
Q

What is aneuploidy?

A

Loss or extra copy of one/more chromosomes, can be lived with.

26
Q

What kinds of structural chromosome abnormalities exist?

A

Deletion

Duplication

Translocation

Inversion

27
Q

What are monogenic disorders caused by?

A

A rare mutation at a single locus.

28
Q

What kinds of gene mutations cause mendelian disorders?

A

Point mutations

Deletion

Insertion

29
Q

What is a point mutation?

A

Replace 1 base with another.

30
Q

What kind of mutation is sickle cell anemia?

A

Point mutation.

31
Q

What kinds of point mutations are there?

A

Silent

Missense

Nonsense

Other regulatory regions.

32
Q

What is a silent point mutation?

A

No change in the protein sequence (change for a pair).

33
Q

What is a missense point mutation?

A

A change in an AA sequence, causes a codon to code for a different amino acid. (sickle cell anaemia)

34
Q

What is a nonsense point mutation?

A

Creates a STOP codon.

35
Q

What is a STOP codon?

A

Signals the termination of the translation process.

36
Q

What kind of mutation is cystic fibrosis?

A

Deletion

37
Q

What kind of mutation is Huntington’s Disease?

A

Insertion

38
Q

What is include in Mendel’s Law?

A

Law of segregation

Law of independent assortment

Law of dominance

39
Q

What is the Law of Segregation?

A

During gamete formation, the 2 alleles for each gene (locus) segregate from each other so that each gamete carries only one allele for each gene (locus).

40
Q

What is the Law of Independent Assortment?

A

Alleles for different traits segregate independently during the formation of gametes.

41
Q

What is the Law of Dominance?

A

An organism with at least one dominant allele will display (phenotype) the
effect of the dominant allele.

42
Q

What is penetrance?

A

The proportion of individuals carrying a particular genetic variant that also expresses an associated trait.

43
Q

What does high penetrance mean?

A

More space for prophylactic intervention.

44
Q

What is the impact of environmental factors on mendelian (monogenic)?

A

Weak but can impact progression.

45
Q

What kind of penetrance do Mendelian disorders have?

A

HIGH

46
Q

What kinds of cells undergo mutations?

A

Somatic (body) cells

Gamete cells.

47
Q

What does a mutation in a somatic cell lead to?

A

Can cause malignant transformation and some congenital diseases.

48
Q

What does a mutation in a gamete cell lead to?

A

Can give rise to inherited disease.

49
Q

Where do inherited mutation come from?

A

Passed from one or both parents.

De novo mutations in gametes.

50
Q

When are inherited mutations present?

A

All through life and in ALL cells.

51
Q

Are inherited mutations passed?

A

YES

52
Q

When do Somatic (de novo) mutations occur?

A

Very early stages of development mean they are present through life but can also occur later in life.

53
Q

What are mosaics?

A

Somatic mutations which occur later in life, are only present in some cells resulting in a mosaic of affected and unaffected cells.

54
Q

Are somatic mutations passed?

A

NO

55
Q

What are multifactorial disorders?

A

Common disorders caused by the combined effects of multiple genetic variants interacting with environmental factors.

56
Q

What does polygenetic mean?

A

Multiple SNPs

57
Q

What is the impact of environment on Multifactorial Complex disorders?

A

A very strong effect works alongside the genetic aspect.

58
Q

What is the penetrance of Multifactorial Complex disorders?

A

Very low so no prophylactic approaches available.

59
Q

What is the individual risk for a multifactorial disease determined by?

A

The combination of the genetic
+
Environmental risk portfolio for this individual

60
Q

Define AETIOLOGY.

A

Cause or set of causes of a condition.

61
Q

What does it mean to have a genetic susceptibility to a complex disease?

A

The likelihood of developing disease increases but doesn’t always directly cause it.

62
Q
A

Genetics and Human Disease (16 decks)

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