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FSM Foundations 1 > FDN1 Genetics > Flashcards

FDN1 Genetics Flashcards

Learn inheritance patterns, pathology, and defining features of genetic disorders (66 cards)

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1
Q

What is the inheritance pattern of Tay-Sachs Disease?

A

Autosomal Recessive

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2
Q

Name 5 major lysosomal storage diseases

A

Tay-Sachs, Mucopolysaccharidoses (Hunter and Hurler), Gaucher, I-Cell Disease, Cystineosis

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3
Q

What is the deficient protein in Tay Sachs Disease?

A

Hex A

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4
Q

What substance accumulates in Tay Sachs Disease?

A

GM2 Ganglioside

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5
Q

What is the inheritance pattern of I-Cell Disease?

A

Autosomal recessive

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6
Q

What is the mechanism of action in I-Cell Disease

A

Lysosomal enzymes aren’t glycosylated, therefore they lack the Mannose-6-Phosphate residues that target them to the lysosomes. They are excreted from the cell

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7
Q

What is a possible treatment for I-Cell Disease?

A

Side chain modification to target enzymes to lysosomes

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8
Q

What is the inheritance pattern of MPS disorders?

A

Autosomal Recessive except Hunter, which is X-recessive

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9
Q

Which diseases provide evidence that a single defect can affect the function of multiple enzymes?

A

I-Cell Disease, Multiple Carboxylase Deficiency

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10
Q

What substance accumulates in MPS disorders?

A

Mucopolysaccharides, also known as glycosaminoglycans

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11
Q

What gene carries the mutation to cause an MPS disorder?

A

Mutations in multiple genes are possible

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12
Q

If cells from two individuals with different MPS disorders can “cross-correct” each other, they must have ________ heterogeneity

A

Locus Heterogeneity

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13
Q

If cells from two individuals with different MPS disorders cannot “cross correct” each other, they must have

A

Allelic Heterogenity; different mutations in the same gene

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14
Q

Give two examples w/definitions of genetic heterogeneity

A

Locus heterogeniety: Mutations at different loci cause similar phenotypes

Allelic heterogeneity: Different mutations in the same gene can result in similar phenotypes

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15
Q

What is the inheritance pattern of Gaucher’s Disease?

A

Autosomal Rescessive

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16
Q

What substance accumulates in Gaucher’s Disease?

A

Glucocerebroside

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17
Q

What enzyme is deficient in Gaucher’s Disease?

A

Glucocerebrosidase

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18
Q

Name 3 common symptoms of Gaucher’s Disease

A

Splenomegaly, hetpatomegaly, bone pain

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19
Q

What disorder could be treated by reducing glucocerebroside production?

A

Gaucher Disease

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20
Q

What is the inheritance pattern of Propionic Acidemia

A

Autosomal Recessive

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21
Q

A newborn presents with acidic blood and urine. Which two genetic disorders is this most concerning for?

A

Propionic Acidemia and Multiple Carboxylase Deficiency

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22
Q

Which disorders are examples of toxic alternative metabolite production?

A

Propionic Acidemia, Multiple Carboxylase Deficiency

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23
Q

Which disorders are examples of product deficiency?

A

Multiple carboxylase deficiency, Glycogen storage diseases

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24
Q

Biotin supplements would treat….

A

Multiple carboxylase deficiency

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25
What is the inheritance pattern of multiple carboxylase deficiency?
Autosomal Recessive
26
Which 3 mechanisms result in abnormal function when only one allele is mutated?
Haploinsufficiency, Dominant Negative Effects, Gain of function
27
Which 3 mechanisms result in abnormal function when an individual is homozygous for the mutated allele?
Substrate accumulation, product deficiency, production of alternative (toxic) metabolites
28
What is the inheritance pattern of familial hypercholesterolemia?
Autosomal Dominant
29
What is the mechanism of disease in familial hypercholesterolemia?
Haploinsufficiency - There are not enough LDL receptors to effectively lower blood cholesterol levels
30
What is a possible treatment for hypercholesterolemia?
Administer STATINS to inhibit HMG-CoA Reductase
31
Name 5 trinucleotide repeat diseases
Fragile X Syndrome, Myotonic Dystrophy, Huntington's SBMA, Fredrich's Ataxia
32
What is the inheritance pattern of Insulin Chicago?
Autosomal Dominant
33
What is the mechanism of disease in Insulin Chicago
Dominant Negative - Insulin Chicago interferes with the normal action of insulin
34
What is the inheritance pattern of Osteogenesis Imperfecta (Severe Phenotype)?
Autosomal Dominant, but due to a de novo mutation because individuals who inherit the gene cannot reproduce
35
What is the mechanism of disease in Osteogenesis Imperfecta
Severe form: Dominant Negative - Abnormal collagen subunit prevents the formation of normal Type 1 collagen multimers Mild Form: Haploinsufficieny - Not enough collagen multimers are formed
36
What is the inheritance pattern of Achondroplasia?
Autosomal Dominat
37
What is the mechanism of action in Achondroplasia?
Gain of Function - Growth plate differentiation is constitutively on
38
What is a possible treatment for Achondroplasia?
Alter peptide structure of inhibitor of the growth plate differentiation pathway to increase its half life, inhibit the pathway that is constitutively on
39
Give two examples of Gain of Function, Autosomal Dominant disorders
Achondroplasia, Familial male precocious puberty
40
What is the inheritance pattern of familial male precocious puberty?
Autosomal dominant, sex limited (only affects males!)
41
What is the mechanism of action in familial male precocious puberty?
Gain of Function - Lutenizing hormone receptor is constitutively on
42
What is the inheritance pattern of Fragile X Syndrome?
X-Linked Dominant
43
What is the mechanism of disease in Fragile X Syndrome?
Loss of Function - CGG repeats in an intron of the FMR1 gene cause overmethylation of the promoter, leading to decreased transcription of FMR1
44
What is the inheritance pattern of Duchenne Muscular Dystrophy?
X-Linked Recessive, but 1/3 of all new cases are a result of de-novo mutation
45
What is the mutation that causes Duchenne Muscular Dystrophy?
Nonsense mutation in dystrophin gene that creates an early stop codon
46
What are two possible treatments for Duchenne Muscular Dystrophy?
Read through, exon skipping
47
Why are successive generations more likely to be affected by Fragile X Syndrome?
This disorder exhibits anticipation. The CGG repeats expand in oogenesis, making it more likely that a child will have more repeats than their parent
48
When a child presents with developmental delay, which two genetic tests should always be performed?
PCR for fragile x, microarray
49
What is the inheritance pattern of SBMA?
X-Linked Recessive
50
What is the mechanism of disease in SBMA?
Gain of Function - CAG repeats in an exon cause a polyglutamine tract in the resultant protein, in a region important for interactions with other proteins. The mutant is toxic
51
What is the inheritance pattern of Myotonic Dystrophy?
Autosomal Dominant
52
What is the mechanism of disease in Myotonic Dystrophy?
Gain of Function - Trinucleotide Repeats in 3' UTR
53
What is the inheritance pattern of Huntington Disease?
Gain of Function - CAG repeats in an exon
54
What causes Prader-Willi Syndrome?
Failure to express part of PATERNAL chromosome 15
55
What causes Angelman Syndrome?
Failure to express part of MATERNAL chromosome 15
56
Which two disorders provide evidence for the importance of genetic imprinting?
Prader-Willi and Angelman
57
What are some symptoms of Prader-Willi Syndrome?
Hypotonia, failure to thrive, obesity, hyperphagia, hypogonadism, small hands and feet
58
What are some symptoms of Angelman's Syndrome?
Inappropriate laughter, ataxia, seizures, growth deficiency, intellectual disability
59
Give some examples of commonly mutated oncogenes in cancer predisposition syndromes
Ras, Myc
60
Give some examples of commonly mutated tumor suppressor genes in cancer predisposition syndromes
P53
61
Give 2 examples of cancer predisposition syndromes that affect tumor suppressors
Li Fraumeni | Retinoblastoma
62
Give an example of cancer predisposition syndromes that affect oncogenes
MEN2
63
Give 2 examples of cancer predisposition syndromes that affect chromosomes stability
Ataxia Telangiectasia, Fanconi Anemia
64
A couple that wants to have a baby has a history of spontaneous miscarriage and a child with down syndrome. What genetic testing would you recommend?
Karyotype or FISH to see if either parent is a translocation carrier
65
What is the difference between early-onset and late-onset Multiple Carboxylase Deficiency?
Early-onset is caused by a deficiency in HOLOCARBOXYLASE SYNTHASE (Normally catalyzes the binding of biotin to the carboxylase.) Late-onset is caused by a deficiency in BIOTINASE (Normally catalyzes the removal of biotin from the carboxylase and recycling)
66
Describe some symptoms of osteogenesis imperfecta
Blue sclerae, extreme bone fragility, multiple fractures

FSM Foundations 1 (6 decks)

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