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Molecules in Medical Science > Genetic diseases > Flashcards

Genetic diseases Flashcards

1
Q

What are some examples of autosomal dominant diseases?

A
  • Huntington disease
  • Myotonic dystrophy
  • Polycystic kidney disease
  • Ehlers Danlos syndrome
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2
Q

What is Ehlers Danlos syndrome and what is its cause?

A
  • Connective tissue disorder.
  • Symptoms include:
    1. Bruising easily
    2. Thin skin
    3. Fragile blood vessels
    4. Easily damageable hollow organ
  • Caused by mutations in collagen gene (esp. COL3A1)
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3
Q

What are some examples of autosomal recessive diseases?

A
  1. Cystic fibrosis
  2. Spinal muscular atrophy
  3. Congenital adrenal hyperplasia
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4
Q

What are some examples of numerical abnormalities?

A
  • Turner syndrome: XO
  • Down syndrome: Trisomy 21
  • Edward’s syndrome: Trisomy 18
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5
Q

What is the cause of Down syndrome?

A
  • Trisomy 21
  • Result of chromosome non-disjunction
  • Most commonly occurs during meiosis, especially during egg formation
  • > 90% of cases inherited maternally
  • Risk of non-disjunction and thus acquiring the disease increases as maternal age increases
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6
Q

What is an example of disease causing insertion/deletion?

A
  • 22q.11.2 deletion syndrome.
  • Causes schizophrenia and other associated neurological disorders.
  • Causes DeGeorge’s syndrome.
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7
Q

What is an example of disease causing reciprocal translocation?

A
  • Philadelphia chromosome.
  • Balanced translocation between chromosomes 9 and 22.
  • Found in ~95% of patients with chronic myeloid leukaemia.
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8
Q

What are the common genetic disorders caused by sex chromosome non-disjunction?

A
  1. Turner’s syndrome (45 XO)
  2. Klinefelter’s syndrome (47 XXY)
  3. XYY male
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9
Q

What are the symptoms of Turner’s syndrome?

A
  • Webbed neck
  • Short
  • Infertility
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10
Q

What are the symptoms of Klinefelter’s syndrome?

A
  • Tall and thin
  • Gynecomastia
  • Learning impairment (mild)
  • Infertility
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11
Q

What are examples of X-linked recessive disorders?

A
  1. Duchenne muscular dystrophy
  2. Haemophilia
  3. Red-green colour blindness
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12
Q

What are the causes and symptoms of DMD?

A
  • Mutation in Dystrophin gene on X-chromosome

- Progressive muscle weakness and degeneration

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13
Q

What are the causes and symptoms haemophilia?

A
  • Haemophilia A: Factor VIII affected
  • Haemophilia B: Factor IX affected
  • Ineffective blood clot formation results in excessive bleeding.
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14
Q

What is an example of an X-linked dominant disorder?

A
  • Rett syndrome.
  • Caused by a mutation in MeCP2 gene, which makes protein involved in methylation.
  • Associated with neurological disorders such as seizures, inability to talk and hand movements.
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15
Q

What is Campomelic Dysplasia?

A
  • Mutation of SOX9 gene on chromosome 17.

- Causes sex reversal and skeletal dysplasia in males.

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16
Q

What are the diseases associated with maternal uniparental disomy?

A
  • 7: Silver-Russell syndrome
  • 11: Silver-Russell syndrome
  • 14: Maternal UPD14 syndrome (Temple syndrome)
  • 15: Prader-Willi syndrome
17
Q

What are the diseases associated with paternal uniparental disomy?

A
  • 6: Transient neonatal diabetes
  • 11: Beckwith-Weidemann syndrome
  • 14: Paternal UPD14 syndrome (Kagami-Wang syndrome)
  • 15: Angelman syndrome
18
Q

What is Beckwith-Weidemann syndrome?

A
  • Paternal uniparental disomy of chromosome 11.
  • Foetal overgrowth with increased risk of childhood tumours.
  • Overexpression of IGF2 in placental cells (paternal).
  • No expression of CDKN1C (maternal).
19
Q

What is Angelman syndrome?

A
  • Paternal uniparental disomy 15.
  • Severe developmental delays.
  • Ataxic movement.
  • Short attention spans.
  • No expression of UBE3A.
20
Q

What is Silver-Russell syndrome?

A
  • Maternal uniparental disomy 7/11.

- Slow pre-/postnatal growth.

21
Q

What is Prader-Willi syndrome?

A
  • Maternal uniparental disomy 15.
  • Neurological problems such as hypotonia, respiratory difficulties, sleeping disorders…
  • Excess weight gain
  • Delayed weight gain
22
Q

What are examples of mitochondrial diseases?

A
  1. DIDMOAD
  2. Kearns-Sayre syndrome
  3. LHON
23
Q

What are examples of trinucleotide expansion diseases?

A
  • Fragile-X syndrome: Caused by CGG repeat
  • Myotonic dystrophy: Caused by CTG repeat
  • Huntington disease: Casued by CAG repeat
  • Friedreich ataxia: Caused by GAA repeat
24
Q

What causes fragile-X syndrome?

A
  • CGG repeat on exon 1 of FMR1 gene on X-chromosome.
  • TNEs prevent the FMR1 gene from being transcribed, preventing the production of FMRP, which is essential in cognitive development.
25
Q

What are the symptoms of fragile-X syndrome?

A
  • Learning disabilities
  • Long face/large ears
  • Increased risk of seizures
  • Autism
26
Q

What causes Friedreich’s ataxia?

A
  • GAA repeats on intron 1 of Frataxin gene on chromosome 9.
  • Trinucleotide repeats cause increased epigenetic modifications (including histone modifications) to the Frataxin gene, suppressing its transcription and expression.
27
Q

What are the symptoms of Freidreich’s ataxia?

A
  1. Speech and movement abnormalities
  2. Heart disease
  3. Diabetes
28
Q

What causes myotonic dystrophy?

A
  • CTG repeats on 3’ end of DMPK gene in chromosome 19.
  • Accumulation of abnormal pre-mRNA sequesters RNA-binding proteins and prevents them from carrying out their normal functions (alternative splicing).
29
Q

What are the symptoms of myotonic dystrophy?

A
  1. Progressive muscular dystrophy

2. Myotonia (difficulty relaxing muscles post-contraction)

30
Q

What causes Huntington’s disease?

A
  • CAG repeats in Huntingtin gene in chromosome 4.
  • CAG repeats sequence causes polyQ (Gln) strand in Huntingtin protein.
  • PolyQ sequences in Huntingtin gene cause formation of polyQ-huntingtin aggregates when the protein is cleaved.
  • Aggregates damage mitochondria, leading to the stimulation of apoptosis.
31
Q

What are the symptoms of Huntington’s disease?

A
  1. Intellectual decline
  2. Myoclonus
  3. Dystonia
  4. Dementia

Molecules in Medical Science (15 decks)

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