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Human Genetic Disorders > Introduction > Flashcards

Introduction Flashcards

(55 cards)

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1
Q

DNA has hydrogen bonds between complementary strands, what other method increases DNA stability?

A

Base stacking

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2
Q

What interactions does base stacking involve

A

hydrophobic and electrostatic interactions

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3
Q

List the purines

A

Adenine and guanine

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4
Q

List the pyramidines

A

Cytosine, thymine and uracil

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5
Q

How many nucleotides make up the human genome?

A

3.2x10^9 nucleotides

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6
Q

How many autosomes and how many sex chromosomes exist

A

22 pairs of autosomes and 1 pair of sex chromosomes

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7
Q

How is DNA compacted

A

In a structure called a nucleosome

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8
Q

How many histone proteins make up the core nucleosome

A

Eight, homodimers of h2a h2b h3 and h4

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9
Q

Histone h1 binds with

A

linker DNA

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10
Q

Describe the structure of euchromatin

A

relatively open, active genes

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11
Q

Describe the structure of heterochromatin

A

highly condensed, late to replicate, inactive genes

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12
Q

Where is the telomere located

A

at the ends of the chromosome

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13
Q

Where is the centromere located

A

in the centre of the chromosome between the two arms

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14
Q

What is the short arm called and what is the long arm called

A

p and q

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15
Q

Describe a metacentric chromosome

A

the centromere is in the middle, the two arms are almost equal in length

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16
Q

Describe a submetacentric chromosome

A

the length of the arms are unequal

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17
Q

Describe an acrocentric chromosome

A

The p arm is so short that it is difficult to observe

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18
Q

Which chromosomes are acrocentric in the human genome

A

13, 14, 15, 21 and 22

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19
Q

Roughly what percentage do intergenic regions make up of the human genome

A

98%

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20
Q

What four types of DNA do the intergenic regions contain

A

repetitive DNA, pseudogenes, endogenous retroviruses and transposons

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21
Q

What is a gene

A

A DNA segment containing instructions for making a particular product, including the regulatory elements

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22
Q

Repetitive DNA sequences are patterns of nucleic acids that occur in multiple copies throughout the genome. How were they first detected?

A

Due to their rapid reassociation kinetics

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23
Q

What are endogenous retroviruses?

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A

A subclass of a type of gene called a transposon

24
Q

What are pseudogenes

Study These Flashcards
A

functionless relatives of genes that have lost their ability to code protein

25
What are transposons/ transposable elements
they can change their position within a genome 'jumping genes'
26
What is transcription?
the synthesis of a mRNA transcript from DNA
27
what is translation
the process by which cellular ribosomes create proteins
28
Where do the cells for cell preparation come from usually
lymphocytes, skin, amniocytes
29
How are cells arrested in metaphase
with the use of colchicine with prevents the formation of spindle
30
what does lysing with hypotonic saline do?
spreading of the chromosomes/ swelling - easier to view
31
What does the g in g banding stand for
giemsa banding
32
what is giemsa
a dna binding dye
33
what is a giemsa stain compared to
an ideogram
34
what is an ideogram
a diagrammatic representation of the karyotype that shows all of the pairs of homologous chromosomes in the nucelus
35
How is numbering of chromosomes done?
from the centromere outwards, chromosome number, the arm, the region and the band
36
what does cgh stand for
comparative genome hybridisation
37
what can conventional cgh detect
allele loss and gene amplification
38
why are microarrays now used instead of cgh
because cgh has low resolution, doesn't give precise localisation of genes
39
what does cgh allow in terms of the genome
whole genome analysis
40
what is a microarray
an ordered assembly of nucleic acids immobilised on a solid support
41
what does each spot on a microarray contain
thousands of copies of the same nucleic acid sequence
42
what do different spots on a microarray contain
different genomic regions
43
what are the advantages of array cgh
detection of any type of gain or loss, faster, more sensitive
44
in an array cgh, the dna fragments from the test sample would most commonly be labelled with a ____ fluorophore
green
45
the green fluorophore from the test and the red fluorophore from the control sample would be
mixed and spread onto the microarray
46
what is detected by the computer to allow array CGH to work
the ratio of green to red
47
If there is a deletion in arrayCGH then the ratio of green to red will be
1:2
48
if there is a duplication in arrayCGH then the ratio of green to red will be
3:2
49
What does FISH stand for
fluorescent in situ hybridisation
50
what does FISH rely on
the fact that the DNA probe can anneal with its complementary target sequence on the metaphasic chromosome
51
What is DAPI
a fluorescent stain used in FISH
52
what is FISH used to detect
detect and localise the presence or absence of specific DNA sequences on chromosomes
53
What is DiGeorge syndrome
deletion of a small segment of chromo22 detected by FISH
54
FISH can allow whole chromosome paint probes to be used, this process is called
multiplex hybdrisiation
55
what is the advantage of multiplex hybdridisation
enables the visualisation of subtle translocations

Human Genetic Disorders (4 decks)

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