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PHRM824 > Exam 5 General Info > Flashcards

Exam 5 General Info Flashcards

1
Q

Dominant

A

Effects are shown and observed in the presence of a normal allele (heterozygous)

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2
Q

Recessive

A

Effects of a variant allele that are observed in the absence of a normal allele (homozygous)

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3
Q

Autosomal

A

Nonsex chromosomes

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4
Q

Sex-linked chromosomes

A

Involves either X or Y chromosomes

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5
Q

% of passing a dominant trait on to offspring? DDxDd

A

50%

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6
Q

What disease are the onset of autosomal dominant is delayed?

A

Huntingtons disease

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7
Q

Inheritance of autosomal recessive traits %? DdxDd

A

25% chance of having an affected child
50% chance of having a carrier child
25% chance for a noncarrier child

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8
Q

Can unaffected children still be carriers?

A

Yes 67% can still be carriers

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9
Q

What does penetrance mean?

A

A % or portion that have a mutated gene and show traits associated with defects

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10
Q

What is complete penetrance?

A

Only 100%

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11
Q

What is incomplete penetrance?

A

Anything less than 100%

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12
Q

What is expressivity?

A

How an individual expresses the gene
Can be by:
Number
Identity
Extent (severity)

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13
Q

What affects expressivity

A

Other genes
Exposure to harmful chemicals or conditions
Environment
Age (Example: only minimal expression a gene at 15 years old but complete expressivity at 60 years old)

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14
Q

What are the 5 variants?

A

Pathogenic (responsible for causing disease)
Likely pathogenic (probably responsible for causing disease)
Uncertain significance (not confirmed to cause disease)
Likely benign (probably not responsible for causing disease)
Benign (not responsible for causing disease)

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15
Q

How do variants occur?

A

Inherited (present in the parents egg or sperm cells)
Non-inherited variants (occur at anytime in a persons life) (not passed along to kids
New (de novo) variants (found in the child but not in either parent, no family history of the disorder)

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16
Q

What are the type of genetic substitution variants?

A

missense mutation
nonsense mutation

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17
Q

What are missense mutations?

A

Changes the amino acid, not a terribly big deal

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18
Q

What are nonosense mutations?

A

When a replacement of a single nucleotide sequence can cause a premature stop codon

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19
Q

What are the two types of generic insertions and deletions? (frameshift)

A

Insertions mutation
Deletions mutation

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20
Q

What happens when there is an insertions mutation?

A

The whole amino acid sequence gets shifted down causing all of the amino acids to be different

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21
Q

What happens when there is an deletion mutation?

A

All of the amino acids move down the replace the deletion causing all the amino acids to be changed after

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22
Q

Can pathogenic variants occur in areas other than protein coding sequences?

A

Yes, in areas around transcription like promoter regions and others

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23
Q

Amorphic?

A

Complete loss of function

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24
Q

Hypomorphic?

A

Partial loss of function

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25
Q

Hypermorphic?

A

Gain of function

26
Q

Dominant negative?

A

Inhibits activity of unmutated proteins

27
Q

Neomorphic?

A

Acquisition of a new property

28
Q

What mutation can cause high cholesterol?

A

Mutations in the LDL receptor (LDL-R)

29
Q

How does loss of function lead to dominant effect?

A

Osteogenesis imperfecta
-One mutation will ultimately result in less production leading to the byproduct to be more dominant

30
Q

What is the collagen trimer?

A

2 subunits of alpha1
1 subunit of alpha 2

31
Q

At what % during loss of function is there considered a dominant effect?

A

50%

32
Q

At what % does a dominant negative have loss of function?

A

75% a more severe case

33
Q

Autosomal dominance caused by gain of function (LDL example)

A

LDL is regulated by PCSK9, but some mutations of PCSK9 will cause a gain of function by increasing the affinity of the LDL-receptor and it can also enhance sorting of LDL-R to lysosome

34
Q

Autosomal recessive caused by loss of function

A

Cystic fibrosis is caused by autosomal recessive
Caused by loss of function to a transmembrane regulator which directly affects the fluid secretion in the respiratory, GI and reproductive tracts

35
Q

What are the results of cystic fibrosis?

A

Thickened mucus
Pulmonary infections
Pancreatic dysfunction
Bile duct blockage
Fat malabsorption
Affects cells of sweat glands, resulting in increased salt content in sweat

36
Q

What is ivacaftor and what does it do with CFTR?

A

It increased function of the CFTR protein
Works only with a specific genotype
Improves clinical symptoms

37
Q

CFTR mutations can cause a significant decrease in pulmonary function what does this eventually lead to?

A

Leads to new drug discovery which lead to the findings of ivacaftor which helps improve pulmonary function

38
Q

How the inheritance of the X-linked recessive traits work? (Xx)x(XY)

A

Mothers who are affected has a 50% chance to pass onto children
Daughters who get this X-linked trait are unaffected but males are
The affected males will pass the trait to all daughters but not sons
USUALLY only males are affected but females can be affected if the father has trait and has children with a female carrier

39
Q

What are some X-linked genetic diseases?

A

Hemophilia A and B
Joint bleeding, muscle hematoma, soft tissue bleeding

40
Q

What are triplet repeat mutations

A

Some genes contain repeats of 3 nucleotides

41
Q

What do all 40 triple mutations have in common

A

The are all associated with neurodegeneration

42
Q

What is the only triplet mutation that is recessive

A

Friedrenich ataxia

43
Q

What is fragile X syndrome?

A

A disease which causes elongated face, protruding ears, and low muscle tone.
This disease causes one of the X chromosomes to be very fragile and has to pass down many years of family called genetic mutations

44
Q

What is the downward signaling of familial mental retardation lead to?

A

A patient with this disease with expanded CGG repeats are hypermethylated, which will eventually lead to transcription silencing

45
Q

What is the downward signaling of familial mental retardation lead to?

A

A patient with this disease with expanded CGG repeats are hypermethylated, which will eventually lead to transcription silencing

46
Q

What is genetic anticipation?

A

When the disease gets more severe through generations of family

47
Q

Diseases caused by mutations in mitochondrial genes affect what?

A

Oxidative phosphorylation

48
Q

Who is able to pass down mitochondrial mutations and is it rare?

A

Females can only pass down mitochondrial mutations and it is rare

49
Q

What are the affected organs in mitochondrial mutations?

A

Mostly the organs which depend on oxidative phosphorylation the most
Skeletal muscle
Heart
Brain

50
Q

What is cytogenetic disorder?

A

When there is an abnormality in chromosomes

51
Q

Translocation?

A

Transfer a part of one chromosome to another chromosome

52
Q

Isochromosome?

A

The centromere divides horizontally rather than vertically, resulting in two short arms and two long arms only

53
Q

Deletion? (chromosome abnormality)

A

Loss of a portion of a chromosome

54
Q

Inversions?

A

When there are two interstitial breaks in a chromosome, the segment reunites but is flipped

55
Q

Ring chromosomes?

A

A variant of deletion, after loss of a segment from each side of the chromosome the arms unite form a ring (usually happens with chromosome 14)

56
Q

What is G banding?

A

A way to look at all of the chromosomes to see if there is any abnormalities

57
Q

What is chromosome nondusjunction?

A

When there is a problem during meiosis 1 or 2 which can lead to the incorrect number of chromosomes

58
Q

What is down syndrome caused by?

A

Nondisjunction which leads to 3 type 21 chromosomes (Trisomy 21)
here are also some features which are only shown in a % of the population / Example: Excess skin of the back of neck 81%

59
Q

What causes Turner syndrome?

A

Monosomy X, where females only have 1 sex chromosome instead of 2

60
Q

What is genetic imprinting?

A

Maternal imprinting = transcription silencing of the maternal allele
paternal imprinting = transcription scilencing of the paternal allele

61
Q

What diseases are involved with genetic imprinting

A

Prader-Willi syndrome
Angelman syndrome

PHRM824 (4 decks)

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