One genetic change {founder mutation} can pass to descendants. More than 1000 human diseases arose from founder mutations. Founder mutations are typically recessive but have benefits in special circumstances, so they can persist.
types
Hereditary hemochromatosis persists because HFE-gene mutation can prevent anemia.
Sickle-cell anemia persists because Hb5-gene mutation can prevent malaria. Sickle-cell anemia has five founders.
Cystic fibrosis persists because CFTR-gene mutation reduces diarrhea.
Factor V Leiden persists because FV-Leiden mutation causes thrombosis but protects against sepsis from blood bacteria.
GJB2-gene mutation causes deafness.
ABCA4-gene mutation causes blindness.
ALDH2-gene mutation causes inability to detoxify alcohol but can prevent alcoholism and possibly hepatitis B.
LCT-gene mutation allows lactose conversion. It began [-3500] in Funnel Beaker culture in north Europe.
For 75% of people, chemicals {phenylthiocarbamide} (PTC) can taste bitter. 25% of people have three changes in one gene, do not taste bitter, and can taste another toxin. Mutation arose 100,000 years ago in Africa. Because there is no variation over those years, it suggests that Homo sapiens did not interbreed with hominins in Mideast, Asia, or Europe.
Another founder mutation suggests that Basques and Celts are similar.
region
DNA regions that contain mutations can be long, for recent founding, or short, for ancient founding. Regions are originally whole chromosomes but shorten at each generation by repeated crossing over.
no founder
Hemophilia results from factor-VII-gene mutations and so has no founder.
Chromosome-4 FGFR3-gene base-pair 1138 and other DNA locations can have high mutation rate and cause achondroplasia. Such DNA diseases have no founder.
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Date Modified: 2022.0224