Genetic Counselling L.O: to explain the role of a genetic counsellor Starter: What sources of...
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Transcript of Genetic Counselling L.O: to explain the role of a genetic counsellor Starter: What sources of...
Genetic Counselling
L.O: to explain the role of a genetic counsellor
Starter: What sources of information might a genetic counsellor use when examining if a baby has a genetic disease? (Think back to last lesson…)
Sources of information that a genetic counsellor would use when assessing a case
Sources of information that a genetic counsellor would use when assessing a case
Chorionic Villi
Sampling
Amniocentesis
Sources of information that a genetic counsellor would use when assessing a case
Chorionic Villi
Sampling
Amniocentesis Parental Blood Test
Family History
Observable characteristics
Ultra sound
Genetic Counsellors
Definition: provide information and support to families who have members with birth defects or genetic disorders and to families who may be at risk of a variety of inherited conditions.
Past Exam Questions
Past Exam Questions
Past Exam Questions
Past Exam Questions
Past Exam Questions
• http://www.youtube.com/watch?v=0enUQ2dxq9Q 5 mins onwards
Cystic FibrosisCystic Fibrosis6. Genetic Screening
5. Gene Therapy
4. Treatments
2. Mutation
3. Mode of Inheritance
1. Affected Areas
(Stick body pic here and fill in labels)
2. Mutation2. MutationA deletion on chromosome 7 causes a faulty
protein (CFTR) to be made. The CFTR usually transports Cl- out of cells, lowering the water potential outside and so water will move outside of the cell by osmosis.
The faulty protein does not allow Cl- to leave the cell, so water does not move outside the cell to dilute the mucus. Therefore, the mucus is thicker and this makes breathing difficult.
3. Mode of Inheritance3. Mode of InheritanceCF is caused by a r_________ allele, so you
need _ copies to express it (h_________).
25% of the population are carriers (h________) therefore are unaffected and unaware they carry the CF allele.
A punnet square / genetic cross to show two carrier parents: (use a ruler to draw a genetic cross here)
4. Treatments4. Treatments(From Fridays video, you should be able to
write a couple of full sentences (not bullet points!) on CF treatments / ways it is managed)
5. Gene Therapy5. Gene Therapy
6. Genetic Screening6. Genetic Screening
Huntington’s Disease – Huntington’s Disease – a neurological disorder a neurological disorder of the central nervous of the central nervous
system that causes system that causes progressive progressive
degeneration of brain degeneration of brain cellscells
6. Genetic Screening
6. Gene Therapy
5. Treatments
3. Mutation
4. Mode of Inheritance
1. Affected Areas
(Draw and label a picture of a neurone here)
2. Symptoms
http://www.youtube.com/watch?v=ht37KNcMAl4
3. Mutation3. MutationA mutation of the Huntingtin gene on
chromosome 4 causes ‘CAG’ to be repeated, over the normal level of 35 times. This increases the size of the protein made, which is then cut into smaller, toxic fragments. These bind together and accumulate in neurones. However, the exact science of how this occurs is unknown.
4. Mode of Inheritance4. Mode of InheritanceHD is caused by a d_________ allele, so you
need _ copy to express Huntingtons Disease.
A punnet square / genetic cross to show an affected heterozygous parent, with a unaffected parent: (use a ruler to draw a genetic cross here)
5. Treatments5. Treatments(From Fridays video, you should be able to
write a couple of full sentences (not bullet points!) on CF treatments / ways it is managed)
6. Gene Therapy6. Gene Therapy
7. Genetic Screening7. Genetic Screeninghttp://www.bbc.co.uk/news/10454649