Topic8 Genetic Screening And Genetic Counselling Flashcards

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1
Q

What are DNA probes and what is it function?

A

DNA probes are short single stranded Pieces that are labelled Radioactively or Fluorescently

Function of DNA probe: Locate Specific Alleles of gene to screen patients

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2
Q

What are the three ways for Identification and Diagnosis of Heritable Diseases?

A

1.Labelled DNA probes and DNA hybridisation to locate alleles

2.Labelled DNA probes to screen patients for heritable conditions, drugs response or health risk

3.Genetic Counselling and Personalised Medicine

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3
Q

How does DNA probes used in identification and Diagnosis of Heritable diseases?

Give whole stage

A

DNA probes created to have complementary base sequence to allele being screened for.

Patients DNA sample treated to make it single-stranded and mixed with DNA probe

If patient has the allele DNA probe will Hybridise(join)
And label indicate presence

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4
Q

What is occurs in DNA Hybridisation?

[Whole thing]

A

1.Patients DNA sample is heated to make it single stranded
Causes Hydrogen bonds between bases to break -Denaturing

2.Patient single stranded DNA sample mixed with DNA probe and cooled and And any complementary sequences can align and form hydrogen bonds
-Anneal

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5
Q

What is the first thing that needs to happen in Locating Specific Alleles of Gene?

A

1.DNA base sequence must be know to then create the DNA probe

2.This can be determined using DNA sequencing techniques

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6
Q

How are DNA fragments made in Locating Specific Alleles of Gene?

A

Fragments of DNA can be produced using gene machine

Fragments can be amplified using PCR

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7
Q

In locating Specific Allele of Genes after DNA fragments made what happens?

A

Labels then added either a Radioactive Nucleotide contains the isotope 32p or Fluorescent(which emits light under U.V light)

After Hybridisation DNA is washed so any unbound DNA probes washed away

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8
Q

How is gene/allele interest determined in Locating Specific Alleles of Gene?

A

Presence of Radioactive or Fluoresce labels therefore indicates that the alleles of interest is present in patients DNA

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9
Q

What is genetic Screening?

Explain all

A

Genetics screening used to screen for Potential Genetic Disorder or presence of cancer causing Oncogenes.

Possible to screen for Multiple disease simultaneously using an Array-

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10
Q

What is getting Personalised Medicine advantageous?

A

Painkillers are either More or less effective depending on Genotype

Also helps determine best dose increase effectiveness,safety and can save money

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11
Q

What is vitamin E used for?

A

Vitamin E can be given to diabetics to reduce risk of CVD

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12
Q

What is Genetic Counselling?

A

Type of Social Work where people can have their family history researched to see the likehood of them carrying Any Alleles linked to disease
Such as screening for Cystic Fibrosis and Sickle cell anaemia or breast cancer
Informed decision

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