genetic screening and counselling Flashcards

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1
Q

what is the role / purpose of a dna probe

A

to locate specific alleles of genes

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2
Q

why are dna probes used

A

to identify if persons dna contains a mutated allele that can cause gentic disorder

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3
Q

what are dna probes

A

short strands of dna that have specific base sequence that is complementory to traget allele

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4
Q

how cand dna probe be identified

A

has a label attached wich is radioacitve

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5
Q

describe the process of locating mutated allele using dna probe

A

first a sample of dna is digested into fragments using restriction endocnuclease and seperated using electroporesis

dna fragments transffered to anylon memebrane

incubated with fluorescent labelled dna probe

if allele is present dna probe will hydrolise (bind) to it

nylon membrane then exposed to uv light and if gene is present their will be a florescent band

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6
Q

how is the sample of dna being tested prepared

A

digested into fragments using restriction endonuclease and then seperated into electrophoresis, before being transfered to nylon memebrane

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7
Q

if allele is present what result occours

A

flouresant band

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8
Q

what is anouther use of probes

A

detect lots of genes at the same time

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9
Q

what is the process of detecting lots of genes at a time using dna probe known as

A

dna microarray

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10
Q

what is a dna microarray

A

a glass slide with small spots of different dna probes attached in rows

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11
Q

describe the processes of dna microarray

A

dna microarray is a glass slide with microscopic spots of differeant dna probes

fluorescent labelled human dna washed over

fluorescent wash contains human dna and if any of the dna sequences matches probes they will stick

array washed to remove any dna that hasn’t stuck

array visulised under uv light

any fluorescent spots means dna contains specific allele

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12
Q

how is a dna probe produced and how can multiple copies be produced

A

sequence allele that you want to screen. then use pcr to produce multiple complementory copies of part of allele

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13
Q

what is genetic counsliing

A

advising parents and relatives about the risks of genetic disorders either in procreation or who is the carrier or the most effective treatment

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14
Q

Q1. explain what a dna probe is

A

dna probe is a short strand of dna, with a specific base sequence complementory to that of target allele

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15
Q

Q2.outline the process of genetic screening for a disease

A

a sample of dna is digested using restriction endonuclease and seperated using electrophoresis
thes eperated dna fragments transferred to nylon mem and incubated with florescent dna probes
if complementory dna probes will hybridise to dna fragments greating a fluoresent strip

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16
Q

Q3.Genetic screening shows that a
person has one mutant allele of
the tumour suppressor gene.
A. Describe the role of the
tumour suppressor gene.

A

it supresses the rapid division of an infected or begnihn cell.

17
Q

B. Suggest how the person
might use the information
revealed by genetic
screening.

A

the individual with the mutation may have not known about the mutated gene and so with this knowladge may seek treatment ask they ay be at a higher risk of cancer