Term
| What is G6PD deficiency, and how is it relevant? |
|
Definition
| Heterozygotes are protected against P.falciparum - clinically benign unless using drugs |
|
|
Term
| Why has G6PD deficiency not reached fixation in malarious regions? |
|
Definition
No homozygote advantage
Suggested haemolysis may be triggered by infections |
|
|
Term
| What does SAO do, what causes it? |
|
Definition
| Caused by deletion in SLC4A1, a transporter protein that mediates attachment of parasitised red cells to the vascular wall, it is South Asian ovalocytosis, it protects against cerebral malaria, but makes anaemia worse. No homozygotes reported, suggested lethal |
|
|
Term
| How is Fanconi anaemia an example of a founder effect? |
|
Definition
| Founder couple - most varriers are descendents, mutations in FANCA, most have the same mutation, deletion of exons 12-31 |
|
|
Term
| What has many examples of founder effects? |
|
Definition
|
|
Term
| What is lactose intolerance? |
|
Definition
| No lactase, lactose is broken down by bacteria, causing gas and diarrhoea (think cholera) |
|
|
Term
| Where is lactase found most? |
|
Definition
| Europe, W africa, NE africa/M east, Indus Valley |
|
|
Term
| Where is Lactase found least? |
|
Definition
| South Africa, SE Asia, Australia |
|
|
Term
| What provides lactase persistance in europeans? |
|
Definition
|
|
Term
| What provides persistance in africa? |
|
Definition
| three haplotypes between 13900 and 14000 |
|
|
Term
| How did haplotype 13910*Treach fixation in europe? |
|
Definition
|
|
Term
| How did dairying get started before lactase was prevealent? |
|
Definition
| Cheese and other milk products are low lactose |
|
|
Term
| How can genetic heritage emerge? |
|
Definition
small popultion over long period
small number of founders
reproductive isolation |
|
|
Term
| What is Pingelap an example of? |
|
Definition
| Bottleneck effect, left with 20 people after a typhoon in 1775 - 1 in 20 completely colourblind, 25% carriers |
|
|
Term
| Example of genetic heritage? |
|
Definition
| Amish - 98% of marriages between people known to be related. Eurgh. |
|
|
Term
| Which diseases do Ashkenazi jews suffer from more than the rest of the population? |
|
Definition
| Tay-Sachs, Gaucher, two mutations that make it more likely for breast cancer |
|
|
