Multifactorial Complex Disorders Flashcards

1
Q

Which inheritance patterns are ‘classical’ / Mendelian?

A
  • Dominant/recessive.

- Autosomal/X-linked.

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2
Q

Which inheritance patterns are non-Mendelian?

A
  • Multifactorial inheritance patterns.

- Maternal (mitochondrial) inheritance patterns.

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3
Q

What is familial clustering?

A

Where the incidence of a disorder in a family is different from the incidence in the general population (such that it is clustered in the family).

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4
Q

What might be the objective of a twin study in gathering evidence for genetic factors in complex diseases?

A

To investigate the incidence in monozygotic compared with dizygotic twins.

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5
Q

What might be the objective of an adoption study in gathering evidence for genetic factors in complex diseases?

A

To investigate the incidence in adopted children of the disorders which their biological parents had.

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6
Q

What might be the objective of a population and migration study in gathering evidence for genetic factors in complex diseases?

A

To investigate the incidence in people from a particular ancestry group when they move to a different geographical area.

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7
Q

List 6 common complex diseases (with multifactorial inheritance) that are congenital.

A

1 - Cleft lip.

2 - Congenital dislocation of the hip.

3 - Congenital heart defects.

4 - Neural tube defects.

5 - Pyloric stenosis.

6 - Talipes.

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8
Q

List 7 common complex diseases (with multifactorial inheritance) that are adult onset disorders.

A

1 - Diabetes mellitus.

2 - Epilepsy.

3 - Glaucoma.

4 - Hypertension.

5 - Coronary artery disease.

6 - Manic depression.

7 - Schizophrenia.

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9
Q

Which gene is (partially) responsible for the development of neural tube defects?

A

The MTHFR gene.

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10
Q

What is empiric risk?

A
  • The probability that a disease will occur in a family based on the family history rather than theory.
  • Used for complex multifactorial conditions (compare to Mendelian inheritance which can be determined theoretically).
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11
Q

How does the method by which we identify the genetic factors involved in a mendelian condition differ from that of a multifactorial condition?

A

With a Mendelian condition, you would analyse within a family, whereas for a multifactorial condition, you would analyse within a group of unrelated patients.

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12
Q

Define association.

A

The occurrence of two or more traits in a population that is more frequent than can be readily explained by chance.

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13
Q

What is an association study used for?

A
  • To identify genetic factors involved in common conditions.
  • To answer the question ‘do people with a condition share a particular DNA pattern?’.
  • Compare SNPs between group of patients with the disease and a control group.
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14
Q

What is the International Hapmap project?

A

A project to map human DNA variants for researchers to use in finding genes predisposing to disease.

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15
Q

What is a single nucleotide polymorphism (SNP)?

A

A substitution of a single nucleotide that occurs at a specific position in the genome, where each variation is present to some appreciable degree within a population.

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16
Q

Why might it be useful to identify SNPs that are more common in people with a particular genetic disease?

A

1 - The SNP may be a direct cause of the disease.

2 - The SNP may act as a marker of other genetic factors in that chromosomal region (e.g. controlling elements or protein coding-genes).

17
Q

What is the difference between genomics and genetics?

A
  • Genomics uses many pieces of genetic information to refine treatment.
  • Genetics is used where changes to just one pair of genes results in a condition.