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Eyedocs revision > Eyedocs genetics > Flashcards

Eyedocs genetics Flashcards

1
Q

What is a Barr body?

A

an inactivated X chromosome

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2
Q

Which molecular techniques are mutation detection techniques?

A
  1. DNA sequencing
  2. Southern blotting
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3
Q

What are the X-linked dominant conditions? (3)

A
  1. Aicardi syndrome
  2. Incontinentia pigmentii
  3. Alport’s syndrome
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4
Q

What type of technique is used in Restrictio nFragment Length Polymorphisms (RFLPs)?

A

Southern Blotting

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5
Q

Which chromosome defect is associated with retinoblastoma?

A

Rb gene located on long arm chromosome 13

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6
Q

What diseases are examples of mitrochondrial inheritance? (6)

A
  1. Lebers hereditary optic atrophy
  2. Mitochondrial encephalopathy, lactic acidosis and stroke (MELAS)
  3. Myoclonus epilepsy associated with ragged-red fibres (MERRF)
  4. Kearns-Sayre syndrome (KSS)
  5. Pearson syndrome
  6. Diabetes/Deafness
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7
Q

What are the steps involved in the cloning process of DNA? (4)

A
  1. Restriction endonucleases cleave sections of human DNA
  2. DNA ligase incorporates human DNA into a vector
  3. Vector transfers DNA to bacteria
  4. Bacteria replicate required segment of DNA
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8
Q

Which mutations causes MEN 2a and MEN2b?

A

RET proto-oncogene on chromosome 10

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9
Q

What is the process of DNA replication (4)

A
  1. DNA helix (parent strand) unwound by DNA helicase to form two single strands (templates)
    at the replication fork
  2. DNA polymerase adds nucelotides to these templates to allow new DNA leading strand to grow in 5’ to 3’ direction
  3. DNA lagging strand formed by discontinuous short nucleotide strands called Okazaki fragments by a different DNA polymerase which is formed in the 3’ to 5’ direction
  4. Thees are joined together by DNA ligase
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10
Q

What is the structure of mitochondrial DNA? (5)

A
  1. Circular double stranded-DNA
  2. Inherited from mother
  3. Encodes 37 genes that produce structural RNA (22 tRNA, 2rRNA) & Proteins of electron transport chain (complex I, III, IV and V)
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11
Q

abl oncogene is associated with what condition?

bcl oncogene is associated with what condition?

hox-11 oncogene is associated with what condition?

A
  1. CML and AML
  2. B-cell lymphoma
  3. T-cell leukaemia
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12
Q

What is c-myc oncogene associated with? (3)

A
  1. breast cancer
  2. lung cancer
  3. burkitt’s lymphoma
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13
Q

What is ras oncogene associated with?
what is ret oncogene associated with?

A
  1. thyroid, colon, lung, pancreas cancer
  2. MEN 2A, MEN2B, thyroid carcinoma
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14
Q

What is the difference between southern blotting and northern blotting?

A

Southern - DNA sequences
Northern - mRNA sequences

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15
Q

What is the main limitation of PCR?

A

High false-positive rate

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16
Q

What is the relation between histones and DNA?

A

histones are alkaline positively charged proteins, allow them to interact with negatively charged DNA

Eyedocs revision (7 decks)

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