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FRACP Shuyu > Genetics > Flashcards

Genetics Flashcards

1
Q

Inheritance of duchenne muscular dystrophy

A

X-linked recessive (mostly)

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2
Q

anticipation (genetics)

A

a genetic disorder is passed on to the next generation, the symptoms of the genetic disorder become apparent at an earlier age with each generation.

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3
Q

uniparental disomy

A

when a person receives two copies of a chromosome, or of part of a chromosome, from one parent and no copy from the other parent

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4
Q

what is p and q on a chromosome?

A

p is the small arm and q is the larger one

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5
Q

what is the difference between chromosome and chromatid

A

chromosome includes the whole thing when it undergoes mitosis but the there are 2 chromatids

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6
Q

cell cycle

A

Interphase (cells spends majority of time interphase):

  1. G1
    1. Making more organelles, mRNA, histones, increasing the volume of the cytoplasm
  2. S
    1. Chromosome duplication
  3. G2
    1. Cell with duplicated chromosomes

MItosis

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7
Q

What happens at metaphase in mitosis

A

The chromosomes are attached to the spindle fibres and lined up (46 chromosomes but 92 chromatids)

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8
Q

What is a tetra in meiosis

A

the homologous chromosomes from the mother and father that line up

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9
Q

What are the difference between bases in DNA vs RNA

A

DNA is guanin,e cytosine, adening, thymine

RNA is guanine, cytosine, adenine, uracil

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10
Q

Which direction is DNA synthesised

A

5’ to 3’

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11
Q

What bases are purine and what are pyrimadine

A

Pyrimadine = C, T, U

Purine = A, G

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12
Q

what are the 2 strands in DNA and which one is copied to mRNA?

A

Coding and template

The template strand is copied to make the mRNA version of the coding DNA strand

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13
Q

How is pre-mRNA modified to make mRNA?

A
  1. Capping - protects mRNA from degradation and ais in ribosome binding during translation
  2. poly (A) tail (made by polyA polyerase) - initiates translation
  3. Splicing (of the introns)
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14
Q

Role of microRNA

A

To regulate protein production

When the RNA precursor folds upon itself and is chopped up by a dicer and joins onto a protein complex

Binds onto target mRNA to either degrade mRNA or blockage translation

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15
Q

What is redundancy?

A

That there are more combinations of codons than amino acids

(including 3 stop codons)

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16
Q

In redundancy, what position of nucleotide is normally different? (but still coding for the same AA)

A

The 3rd nucleoside

17
Q

What is the mechanism of trinucleotide repeat

A

Slipped-strand mispairing

18
Q
  1. What is a missense mutation?
  2. What is a nonsense mutation?
A
  1. Missense
    1. A substitution in 1 DNA base pair that change the codon for 1 amino acid into another
  2. Nonsense
    1. When the DNA base change results in a stop codon - depends on where in the AA the codon is
19
Q

What is epistasis (genetics)

A

When 1 gene affects the expression of another gene (e.g. albinism)

20
Q

What happens when an oncoene is translocated next to an immunoglobulin heavy or light chain or T-cell receptor gene?

A

The T-cell receptor/Ig genes naturally undergo extensive rearrangements so that that oncogene can also undergo unregulated rearrangement and growth

(e.g. the heavy Ig gene is on chromosome 14 and a lot of haematological malignancies involve translocations with chromosome 14)

E.g. Mantle cell lymphoma 11:14 - translocation of the cyclin D gene onto the heavy Ig

21
Q

What happens when there is Robertsonian translocation

A

When chromosomes with very short arms are lost.

Parents are generally not affected but the offsprings can have trisomy/monosomy

22
Q

What stage of cell division is karyotype done at?

A

Metaphase

23
Q

What does comparative genomics hybridization detect?

A
  • Smaller regions of DNA along the lengths of all of the chromosomes
  • CNVs
  • Doesn’t detected balanced structural rearangements
24
Q

What is loss of heterozygosity?

A

Loss of 1 allele’s DNA

(e.g. loss of normal gene in mutated cancer susceptibility gene

25
Q
A
26
Q

What is a Barr body?

A

An inactivated X chromosome

27
Q

What is the mechanism of imprinting?

A

DNA methylation of the promotor region

28
Q

What genetic phenomenon can cause haemophilia to manifest in females?

A

Skewed X-inactivation

29
Q

What is the mechanism of uniparental disomy in meiosis?

A

Meiosis I - non disjunction

Meiosis 2 - when 2 games with x1 and x2 chromosome fuse, there is trisomy rescue where the 3 chromosomes are reduced to 2 and if the outcome combination are x2 chromosomes from 1 parent OR when there is monosomy rescue

Can unmask imprinting or develop recessive condition

30
Q

How to calculate the carrier frequency from allele frequency?

A

Carrier frequency = 2pq as per the Hardy Weinberg Equation

31
Q
A

FRACP Shuyu (65 decks)

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