Genetics Flashcards

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1
Q

What is the role of a dentist in genetic testing?

A
  • Refer to clinical genetics and request tests
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2
Q

What does confirming a genetic diagnosis allow the dentist to give the patient?

A
  • Can co-ordinate management
  • Can give them information about the suspected condition
  • Can give the patient options (treatment, etc)
  • Can allow the patient to identify if there may be any risk to self or family members
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3
Q

How many pairs of autosomes are there in the human genome?

A

22 pairs

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4
Q

What is a chromosome?

A

A double-stranded DNA, coated with proteins

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5
Q

What does this pedigree symbol mean?:

White square with black border

A

Male

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6
Q

What does this pedigree symbol mean?:

White square with black border with diagonal line through it

A

Male who has died

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7
Q

What does this pedigree symbol mean?:

White circle with black border

A

Female

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8
Q

What does this pedigree symbol mean?:

Black square or circle

A

Affected male or female

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9
Q

What does this pedigree symbol mean?:

Half filled in square or circle

A

Carrier of disease

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10
Q

What does this pedigree symbol mean?:

Arrow pointing to square or circle

A

Proband - Person in the family that brings family to attention - where you notice something is wrong

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11
Q

What does this pedigree symbol mean?:

Square and circle with ===== (double line) connecting them

A

Consanguineous marriage - people who are in a partnership and are genetically related

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12
Q

What does this pedigree symbol mean?:

Square and circle with line connecting them that is scored out

A

Divorced couple

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13
Q

What does this pedigree symbol mean?:

White diamond

A

Pregnancy

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14
Q

What does this pedigree symbol mean?:

Black (filled in) diamond

A

Miscarriage

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15
Q

What are examples of SIMPLE genetic diseases?

A
Single gene mutations:
- Autosomal dominant 
- Autosomal recessive 
- X-linked recessive 
(X-linked dominant)
(Y-linked)
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16
Q

What are examples of COMPLEX genetic diseases?

A
  • Multiple genes + environmental factors

- Multiple genes +/- chromosomal abnormalities

17
Q

What does dominant mean?

A

Only need one faulty gene to get the disease

18
Q

What does recessive mean?

A

Need both faulty genes to get the disease

19
Q

What does knights move inheritance mean?

A
  1. Features:
    - Two males related through UNAFFECTED female
    - Only males are affected - tends to mean it is X chromosome recessive
  2. Mode of inheritance:
    - X-linked recessive (the female has an additional unaffected X chromosome which ‘protects’ her)
20
Q

What does single nucleotide polymorphism mean?

A

The change in one base so a single letter in the genetic code is different from someone else’s

21
Q

What effects can deletion; premature translation stop have?

A

Complete inactivation of a function of protein

22
Q

What effects can AA substitutions in key regions, regulatory variants have?

A

Decreased function

23
Q

What effects can non-coding DNA, no change in AA, alters less important region of protein have?

A

No significant effect

24
Q

What effects can AA substitutions in key regions, regulatory variants or duplications have?

A

Increased function - variant actually has an advantage