Bodmer and McKie (1995) review several cases, similar to achromatopsia in the Pingelapese, in which genetic diseases occur at unusually high frequency in populations that are, or once were, relatively isolated. An enzyme deficiency called hereditary tyrosinemia, for example, occurs at an unusually high rate in the Chicoutimi region north of Quebec City in Canada. A condition called porphyria is unusually common in South Africans of Dutch descent. Why are genetic diseases so common in isolated populations? What else do these populations all have in common?
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