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Molecular Diagnosis > Mutation & Inherited Disease > Flashcards

Mutation & Inherited Disease Flashcards

1
Q

What are base substitutions?

A

Replacement of a single base

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2
Q

What are deletions?

A

When one or more nucleotides are eliminated

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3
Q

What are insertions?

A

When one or more nucleotides are inserted into a sequence

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4
Q

What are endogenous mutations?

A

Mutations that occur as errors of replication or DNA repair

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5
Q

DNA is vulnerable to spontaneous damage from what?

A

Exposure to reactive metabolites or ionizing radiation.

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6
Q

Mutations occur in our somatic cells and gremlins. Which of these two give it the potential of being passed on to offspring?

A

Mutations in germline.

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7
Q

What are polymorphisms?

A

Existence of two or more variants (alleles sequence variants) at significant frequencies in the population

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8
Q

Any sequent variant present at a frequency greater than 1% in a population is called?

A

Polymorphism

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9
Q

Any non pathogenic sequent variant, regardless of frequency is a

A

polymorphism

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10
Q

What does the term heterozygosity describe?

A

Percentage difference between allelic sequences. (different versions of a gene)

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11
Q

What is the mean heterozygosity of the human genome?

A

0.08%

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12
Q

What type of polymorphism classifies a change in a single nucleotide?

A

Single nucleotide polymorphism.

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13
Q

Most SNPs are substitutions be a different

A

nucleotide

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14
Q

Where do most SNPs occur?

A

In non-coding DNA like introns nd intergenic sequences

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15
Q

What are synonymous/silent substitutions?

A

This is when base change results in a a new codon but specifies the same amino acid

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16
Q

Silent substitutions usually occur at?

A

the wobble position (3rd base)

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17
Q

Base substitutions that result in a different amino acid are called?

A

Missense mutations

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18
Q

What is the difference between conservative and non-conservative missense mutations?

A

Conservative shows replacement with a chemically similar amino acid while non-conservative shows replacement with a dissimilar amino acid.

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19
Q

A base substitution that results into a stop codon is called

A

nonsense mutation

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20
Q

What is the result of a nonsense mutation?

A

A truncated protein which is either dysfunctional or nonfunctional

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21
Q

What mutations are a result of an insertion or deletion in coding DNA that is not a multiple of three?

A

Frame shift mutations

22
Q

What is the result of frame shift mutations?

A

They change the translational reading frame, causing a rearrangement of the codons that are read during translation, different amino acid, premature stop codon introduced.

23
Q

What is penetrance?

A

This is the frequency of expression of disease phenotype in individuals with a gene mutation

24
Q

What is the difference between completed and incomplete penetrance?

A

In complete penetrance, the disease phenotype is expressed in every individual with the mutated gene, while in incomplete penetrance, individuals may have mutated gene bu do not express disease traits.

25
Q

Complete penetrance is associated with

A

recessive, dominant or co-dominant disease

26
Q

Incomplete penetrance is associated with

A

dominant inherited diseases

27
Q

Give some examples of complete penetrance

A

Neurofibromatosis type I, achondroplasia

28
Q

Give some examples of incomplete penetrance

A

familial breast cancer, retinoblastoma

29
Q

What is variable expressivity?

A

When one mutation causes a range of different disease traits

30
Q

What is an example of variable expressivity?

A

Marfan’s syndrome

31
Q

What is Marfan’s syndrome?

A

Autosomal dominant disease, mutation in collagen formation

32
Q

What do single gene disorders involve?

A

Affect structure and function of different types of proteins resulting in a variety of diseases.

33
Q

What are lysosomes?

A

Cellular organelles which degrade endocytosed particles or cellular waste produced by intracellular turnover using special enzymes that work in an acidic environment.

34
Q

Degradation of endocytosed particles is

A

heterography

35
Q

Degradation of cellular waste produced by intracellular turnover is

A

autography

36
Q

Lysosomal storage disorders result from

A

mutations in lysosomal enzymes

37
Q

What is the accumulated product in Tay Sachs disease?

A

Spingolipids

38
Q

What is the accumulated product in Niemann-pick disease?

A

Sulfatides

39
Q

What is the accumulated product in Gaucher’s disease?

A

glucoserobosides

40
Q

What is hemochromatosis?

A

a condition that causes over absorption of iron from food

41
Q

What causes cystic fibrosis?

A

Loss of function of a chloride channel, CFTR

42
Q

What causes hemochromatosis?

A

Mutation in the HFE gene

43
Q

What are trinucleotide repeats?

A

Specific short tandem repeats that are a repeated sequence of three nucleotides.

44
Q

What are the three trinucleotide repeats diseases?

A

Friedreich’s ataxia
Fragile X syndrome
Huntington disease

45
Q

GAA is repeated on chromosome 9 causing lack of muscle cordination and heart problems

A

Friedreich’s ataxia . 6-29 (N) 200-900 (A)

46
Q

CGG is repeated many times at fragile ends of X-chromosome arms leading to excess protein formation and mental retardation in males

A

Fragile X syndrome 6-54 (N) 50-1500 (A)

47
Q

CAG repeats many times on chromosome 4 leading to neurodegenerative disease

A

Huntington disease. 9-37 (N) 37-121 (A)

48
Q

The differential activation of genes depending on the parent rom which they are inherited is called

A

genomic imprinting

49
Q

Angelman syndrome

A

Deletion on maternal chromosome 15 given by the mother, severe congenital mental retardation, unusual facial appearance, muscular abnormalities, controlled laughter sometimes.

50
Q

Prader-Willi syndrome

A

When there is no inheritance of the genes on chromosome 15 from the father, insatiable appetite, mental retardation, lack of sexual development.

Molecular Diagnosis (11 decks)

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