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Molecules to Cells - Genetics and Virology > Lecture 32. Genetics of Common Disease > Flashcards

Lecture 32. Genetics of Common Disease Flashcards

1
Q

How does the inactivated x chromosome replicate and stay inactivated ?

A

Exists as the barr body and replicated at the s phase of mitosis

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2
Q

What are the markers used for linkage analysis ?

A

These markers are simply oligos, or synthetic strands of DNA that will bind to a specific sequence of DNA in the human genome

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3
Q

How do restriction enzymes recognise specific DNA sequences ?

A

The active site of the enzyme has a configuration that only allows a specific sequence of DNA to make correct contact. Once the correct sequence enters the active site, the enzyme changes conformation and breaks the DNA chain.

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4
Q

Why do BRAC1 and BRAC2 variants only affect breast/ovary tissue ?

A

They can lead to other cancers but promoters induce higher expression levels in these tissues

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5
Q

What is down syndrome caused by ?

A

A trisomy in chromosome 21

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6
Q

What are some signs and symptoms of down syndrome ?

A
  1. Craniofacial patterning
  2. Cognitive impairment
  3. Congenital heart defects
  4. Duodenal stenosis
  5. Megakaryocytic leukaemia
  6. Solid tumours are less common
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7
Q

What is Edward’s syndrome caused by ?

A

Trisomy 18

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8
Q

What are some clinical features of Edward’s syndrome ?

A
  1. Mental retardation
  2. Low birth weight
  3. Abnormally shaped head
  4. Clenched fists
  5. Heart defects
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9
Q

What is Patau syndrome ?

A

Trisomy 13 (mosiac)

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10
Q

What are some features of Patau syndrome ?

A
  1. Cleft lip/palette
  2. Clenched hands
  3. Close set eyes
  4. Poor muscle tone
  5. Polydactyly
  6. Low set ears
  7. Mental retardation
  8. Microcephaly
  9. Congenital heart disease
  10. Seizures
  11. Deafness
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11
Q

What is klienfelter syndrome ?

A

XXY - affects males, tutankhamen

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12
Q

What are some symptoms of klienfelter syndrome ?

A
  1. Tall, thin
  2. Infertile
  3. Mild to moderate breast development
  4. Sagging tummy
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13
Q

What is Turners syndrome ?

A

45XO

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14
Q

What are some signs of turner’s syndrome ?

A
  1. Webbing of neck
  2. Short stature
  3. Ovarian failure
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15
Q

What is triple X syndrome ?

A

XXX - maternal X chromosomes do not disjoin

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16
Q

What are the four structural aberrations of chromosomes ?

A
  1. Deletions
  2. Duplications
  3. Inversions
  4. Translocations
17
Q

What is Cri du chat ?

A

A well known deletion syndrome

18
Q

What is cri du chat also known as ?

A
  1. 5p syndrome

2. Lejeune syndrome

19
Q

What are some signs of cri du chat ?

A
  1. Characteristic cry
  2. Mental retardation
  3. Difficulty swallowing
  4. Hyperactive or aggressive behavior
20
Q

What is the cause of cri du chat ?

A

Deletion of the short arm of chromosome 5

21
Q

What is 22q11 deletion syndrome also known as ?

A
  1. Velo-cardiofacial syndrome

2. Di-george syndrome

22
Q

How is 22q11 deletion syndrome caused ?

A

Microdeletions within chromosome 22 and these deletions can be up to 3 megabases in size which comprises of approx. 40 genes

23
Q

What are some affects of 22q11 deletion syndrome ?

A
  1. Schizophrenia

2. Minor intellectual disabilities

24
Q

What are some signs of 18q syndrome ?

A
  1. Mental retardation
  2. Mid face hypoplasia
  3. Everted lower lip
  4. Long tapered fingers
  5. Prominent chin
  6. Congenital heart defects
25
Q

What is a balanced translocation ?

A

Where chromosome arms exchange parts, but there is no loss or gain of genetic material

26
Q

What are inversions ?

A

Breakage of a chromosome at two points and re-joining in the wrong orientations

27
Q

What does a history of recurrent spontaneous miscarriage suggest ?

A

One of the parents is a carrier of a chromosome anomaly (balanced, translocations, inversions )

28
Q

What is polydactyl disorder ?

A

A common autosomal dominant disorder (Often GL13 gene)

29
Q

What is achondroplasia ?

A

Dwarfism - a dominant mutation within the FGFR3 gene which encodes the fibroblast growth factor receptor 3

30
Q

What is myotonic dystrophy ?

A

An autosomal dominant disorder

31
Q

How many types of myotonic dystrophy is there and what are they?

A

2 - DM1 and DM2

32
Q

What are some signs of myotonic dystrophy ?

A
  1. Myotonia
  2. Respiration and heart problems
  3. Cataracts
33
Q

Where is the mutation is myotonic dystrophy ?

A

They are the expanding nucleotide repeat type in one of DMPK and ZNF9

34
Q

What is marfan syndrome caused by ?

A

Dominant acting mutation within the fibrillin gene

35
Q

What are some signs of marfan syndrome ?

A

Long spindly body, hands and feet

36
Q

What is epiermolysis bullosa simplex ?

A

A autosomal dominant disease of the skin involving trauma induced blistering.

37
Q

What is epidermolysis bullosa simplex caused by ?

A

Mutation in either keratin K5 or K14 genes

Molecules to Cells - Genetics and Virology (16 decks)

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