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Human Genetic Disorders > Introduction > Flashcards

Introduction Flashcards

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?

A

A subclass of a type of gene called a transposon

24
Q

What are pseudogenes

A

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

25
Q

What are transposons/ transposable elements

A

they can change their position within a genome ‘jumping genes’

26
Q

What is transcription?

A

the synthesis of a mRNA transcript from DNA

27
Q

what is translation

A

the process by which cellular ribosomes create proteins

28
Q

Where do the cells for cell preparation come from usually

A

lymphocytes, skin, amniocytes

29
Q

How are cells arrested in metaphase

A

with the use of colchicine with prevents the formation of spindle

30
Q

what does lysing with hypotonic saline do?

A

spreading of the chromosomes/ swelling - easier to view

31
Q

What does the g in g banding stand for

A

giemsa banding

32
Q

what is giemsa

A

a dna binding dye

33
Q

what is a giemsa stain compared to

A

an ideogram

34
Q

what is an ideogram

A

a diagrammatic representation of the karyotype that shows all of the pairs of homologous chromosomes in the nucelus

35
Q

How is numbering of chromosomes done?

A

from the centromere outwards, chromosome number, the arm, the region and the band

36
Q

what does cgh stand for

A

comparative genome hybridisation

37
Q

what can conventional cgh detect

A

allele loss and gene amplification

38
Q

why are microarrays now used instead of cgh

A

because cgh has low resolution, doesn’t give precise localisation of genes

39
Q

what does cgh allow in terms of the genome

A

whole genome analysis

40
Q

what is a microarray

A

an ordered assembly of nucleic acids immobilised on a solid support

41
Q

what does each spot on a microarray contain

A

thousands of copies of the same nucleic acid sequence

42
Q

what do different spots on a microarray contain

A

different genomic regions

43
Q

what are the advantages of array cgh

A

detection of any type of gain or loss, faster, more sensitive

44
Q

in an array cgh, the dna fragments from the test sample would most commonly be labelled with a ____ fluorophore

A

green

45
Q

the green fluorophore from the test and the red fluorophore from the control sample would be

A

mixed and spread onto the microarray

46
Q

what is detected by the computer to allow array CGH to work

A

the ratio of green to red

47
Q

If there is a deletion in arrayCGH then the ratio of green to red will be

A

1:2

48
Q

if there is a duplication in arrayCGH then the ratio of green to red will be

A

3:2

49
Q

What does FISH stand for

A

fluorescent in situ hybridisation

50
Q

what does FISH rely on

A

the fact that the DNA probe can anneal with its complementary target sequence on the metaphasic chromosome

51
Q

What is DAPI

A

a fluorescent stain used in FISH

52
Q

what is FISH used to detect

A

detect and localise the presence or absence of specific DNA sequences on chromosomes

53
Q

What is DiGeorge syndrome

A

deletion of a small segment of chromo22 detected by FISH

54
Q

FISH can allow whole chromosome paint probes to be used, this process is called

A

multiplex hybdrisiation

55
Q

what is the advantage of multiplex hybdridisation

A

enables the visualisation of subtle translocations

Human Genetic Disorders (4 decks)

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