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Topic 8

Genetic screening and genetic counselling

TermDefinition
Identification and Diagnosis of Heritable Diseases 1) Lablled DNA probes and DNA hybridisation to locate alleles 2) Lbelled DNA probes to screen patients for heritable conditions drug responses or health risks 3) Genetic counselling and personalised medicine
What are DNA probes They are short single stranded pieces of DNA that are labelled radioactivley or flurescently so they can be identified
What is it used for This is used to locate specific alleles of genes and to screen patients for heritable conditions drug responses or health risks
DNA probes are created To have a complementary base sequence to the allele that is being screened for
The Patients DNA sample is treated To make it single stranded and it is then mixed with the DNA probes
If the patient has the allele Then the DNA probe will hybridise and the label indicates the presence
Steps for DNA Hybridisation The patients DNA Sample is heated to make it single stranded The heat causes the hydrogen bonds between bases to break
The patients single stranded DNA sample is mixed with the DNA probe and cooled to any complementary sequences can align to form hydrogen bonds
Some of the patients DNA samples will anneal back together but some will anneal with the DNA probe
Locating specific alleles of genes To locate a specific allele the DNA base seuquence must be known to create the DNA probe
This can be determined by using DNA sequecning techniques (e.g sanger method)
The fragment of DNA can be produced using a gene machine
This fragment can be amplified using PCR The label is then added either a radioactive nucleotide containing the isotope or fluroescent label which emits light under UV light
After hybridisation the DNA is washed so that any unbound DNA probes are washed away
Genetic screening can be used to screen for potential genetic disorders or for the presence of cancer causing oncogenes
It is possible to screen for multiple diseases simultaneously using an array where multiple different DNA probes are attached
Personalised medicine is one key reason to having your DNA screened can be advantageous Certain drugs such as some painkillers are more or less effective depending on your genotype. It can also help determine the best dose which can increase the effectivness saftey and can save money
Why is Vitimin E used This can be given to diabetics to reduce the risk of CVD for some but for others with a different genotype it can actually increase the risk
Genetic councelling is used as Having your DNA screened is a decrision that must be thought through carefully and must be discussed with patients so they make a informed decision
Created by: yHya
 

 



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