11683986
Description
Flashcards by Jaweria Khalid, updated more than 1 year ago
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Created by Jaweria Khalid
about 7 years ago
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| Question | Answer |
| Name some diseases caused by a single gene: | PKU Huntington's disease Cystic Fibrosis -> Huntington's is caused by a dominant allele. -> CF is caused by a recessive allele. |
| What causes Cystic Fibrosis? | CF is an inherited disease. caused by a genetic variant of the CFTR gene. |
| How does having Cystic Fibrosis affect the sufferer? | CF can cause big problems for breathing and digestion. Cell.s that make mucus in the body don't work properly. The mucus is thicker than it should be so blocks the lungs. It also blocks tubes that take enzymes from the pancreas to the gut. The shortage of enzymes means that food isn't digested properly so they can be short of nutrients. |
| Inheriting Cystic Fibrosis: | Most people with CF can't have children. The thick mucus affects their reproductive organs. So babies with CF are usually born from healthy parents (carriers). They have one health variant 'C' and one harmful variant 'c'. When two fault alleles meet at fertilisation the baby will have CF. |
| Cystic Fibrosis basic information: Stats | 1 in every 25 people in the UK have a harmful variant. 11 in every 2500 babies is born with it. At present there is no cure for it. and so has to be managed for the whole of a person life. |
| Can gene technology help us make better decisions about ingerited diseases? | Most parents who give birth to a child with CF have no idea that they are carriers of the harmful variant. It is easy to test adults using a sample of saliva to see if they have the harmful variant. This is called genetic testing. It is a type of gene technology. |
| What is genetic testing? | Genetic testing is the study of a person's DNA in order to identify genetic differences or susceptibility to particular diseases or abnormalities. |
| Ethics about genetic testing: | With genetic testing there is a small chance that it will give an incorrect result. This is a practical limitation of the test. - A false negative - tests fails to detect the harmful genetic variant even though it is present. - A false positive - test diagnosis a harmful genetic variant when it is not present. |
| How else can an embryo be tested? | Pre-implantation genetic diagnosis (PGD). Eggs are removed from the mother and are fertilised with a sperm in a lab. When the embryo are 3-6 days old, a cell is removed from each embryo and tested for harmful genetic variants. An embryo without harmful variant is selected and implanted into the mothers uterus. If successful the child and later on will not have the disease. |
| What are some risks of this technique? | 1) Collecting eggs is difficult and unpleasant for women. 2) Fertilisation and implantation does not always work. 3) Removing a cell from an embryo might weaken it. 4) There is a chance of a false result from the genetic test. |
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