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Molecular Genetics > lecture 2 > Flashcards

lecture 2 Flashcards

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1
Q

metacentric chromosomes

A

centromere in the middle
equal length of arms

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2
Q

submetacentric chromosomes

A

centromere not in the middle
p arm is a bit smaller than q arm

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3
Q

acrocentric chromosomes

A

centromere close to the end
p arm very small
satellites appear

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4
Q

telocentric chromosomes

A

centromere at the end
no p arms

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5
Q

satellite chromosomes

A

SAT chromosomes
- small chromosomal segment separated from the main body by a secondary constriction
- usually on short arm of acrocentric chromosomes

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6
Q

homologous chromosomes

A

1 maternal and 1 paternal
same length and size
same centromere position
codes for the same genes at same loci
carry different alleles
in somatic cells (2n, diploid)

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7
Q

Karyotype

A

metaphase chromosomes, organized according to size
- always in pairs of homologous chromosomes

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8
Q

Nomenclature of chromosome segments

A
  • region = part of the chromosome that is formed by some bands
  • each chromosome has distinct banding patterns, with each band numbered
  • numbering starts from the centromere and then goes outwards -> regions and bands on the p- and q-arms can have the same number
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9
Q

How to determine a specific band on a chromosome

A
  1. Chromosome number
  2. symbol of the arm (q or p)
  3. region number
  4. band number
  5. comma + subband number
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10
Q

idiogram

A

the diagrammatic depiction of the morphological bands of a chromosome

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11
Q

Q bands

A

quinacrine methods
- fluorescent dye

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12
Q

G band

A

giemsa method
- giemsa staining + trypsinization

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13
Q

comparison of Q and G bands

A
  • Q and G bands are identical
  • G staining does not use fluorescent microscope
  • Q staining allows for certain identifications of Y chromosome due to fluorescence
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14
Q

R bands

A

reverse methods
- denaturation with heat and then stained with R banding
- negative photography of G and Q banding techniques

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15
Q

C band

A

centromere methods
- denaturation with heat or alkaline solution and then giemsa staining
- repetitive DNA sequence (SAT regions) stained
- usually heterochromatin areas stained

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16
Q

T band

A

telomeric method
- staining of telomeres

17
Q

eu- and heterochromatin

A
  • euchromatin in transcription-active cells
  • heterochromatin in less active cells
18
Q

Ag-NOR

A
  • silver solution staining
  • Nuclear Organizer Regions (NORs) emerge -> areas of euchromatin
19
Q

Which banding are most useful for studying gene expression?

A

C banding
Ag-NOR

20
Q

DNA hypothesis

A
  • Quinacrine stains A-T rich regions
    -> Q bands correspond to A-T rich segments
  • R bands are more resistant to denaturation -> corresponds to C-G rich segments
21
Q

Protein hypothesis

A
  • Proteolytic digestion induces the appearance of G bands
  • removal of proteins from chromatin creates a banding pattern

-> formation of bands depends on the properties of the whole DNA-protein complex

22
Q

According to which characteristics are the chromosomes categorized into groups?

A
  • size, length
  • centromere position
  • banding properties
23
Q

Group A

A

Chromosomes 1-3
- large meta- and submetacentric
- Chrom 1 is largest metacentric, secondary constriction
- chrom 2 is largest submetacentric

24
Q

Group B

A

Chromosomes 4 and 5
- large submetacentric

25
Q

Group C

A

Chromosomes 6-12, X Chromosome
- medium submetacentric
- chrom 9 secondary constriction
- X chrom one of the largest in the group

26
Q

Group D

A

Chromosomes 13-15
- acrocentric
- variation in p-arms -> heteromorphism

27
Q

Group E

A

Chromosomes 16-18
- small metacentric and submetacentric
- Chrom 16 secondary constriction

28
Q

Group F

A

Chromosomes 19 and 20
- metacentric

29
Q

Group G

A

Chromosomes 21 and 22, Y chromosome
- short acrocentric
- heteromorphism
- Y chrom usually largest in the group

30
Q

NORs in which groups?

A

p arms of Group D and G

31
Q

Chromosomal Heteromorphism

A
  • length variation among individuals
  • at satellite of acrocentric chromosomes, Y chromosome length, and at secondary constrictions of Chrom 1,9 and 16
  • dominantly inherited
  • to determine the maternal or paternal origin of a chromosome
  • related to infertility and recurrent miscarriages
32
Q

High resolution banding technique

A
  • observed bands up to 2000 bands
  • accurate determination of breakages and translocations
33
Q

autoradiography

A
  • radioactive thymine
  • study of chromosomal replication time
34
Q

flow cytometry

A
  • fast analysis
  • isolation of each chromosome separately and gene mapping
35
Q

Fluorescent in Site Hybridisation FISH

A
  • detection of specific chromosome
  • fluorescent probe complementary to particular chrom region or gene
  • down syndrom and other abnormalities can be detected

Molecular Genetics (5 decks)

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