11645364
Description
Flashcards by lily bevan, updated more than 1 year ago
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Created by lily bevan
almost 7 years ago
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| Question | Answer |
| What is cystic fibrosis? | An inherited disease caused by a genetic variant of the CFTR gene. |
| What does cystic fibrosis cause? | Big problems for breathing and digestion as cells that make mucus in the body don't work properly, making it a lot thicker, causing it to block up the lungs. |
| What is the name given to the parents of children with CF? | They are carriers. |
| How could gene technology/ testing help make decisions about inherited diseases? | They can test if peopler carriers of harmful variants. |
| What does the size of a risk depend on? | + The chance of it happening + The consequences if it did happen |
| What is an amniocentesis test? | Testing the cells from the amniotic fluid |
| What is a Chronic villus test? | testing the cells from the placenta. |
| When can an amniocentesis test happen, & what are the risks? | + @ 15 - 18 weeks + 0.5% risk of miscarriage + very small risk of infection + small risk of incorrect result |
| When can a chronic villus test happen, & what are some risks? | + @ 10 - 12 weeks + 2% risk of miscarriage + almost no risk if infection + small risk of incorrect result |
| What do people take into account when making ethical choices? (i.e. abortion) | + quality of life + disability + personal beliefs |
| What is a false negative? | Where a test fails to detect the presence of a harmful genetic variant when it is present. |
| What is a false positive? | Where a test diagnoses a harmful genetic variant when it is not present. |
| What is pre-implantation genetic diagnosis (PGD) | Eggs are removed from mother's ovaries and fertilised w/ the father's sperm in a laboratory. When the embryos are 3-6 days old, a cell is removed from each embryo, & tested for harmful genetic variants. An embryo w/out harmful variant is selected and implanted in the uterus. |
| What are the risks of PGD | + collecting eggs is difficult & unpleasant for the woman + the fertilisation & implantation does not always work + removing a cell from an embryo might weaken it + there is a chance of a false result |
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