Allelic heterogeneity in inbred populations: the Saudi experience with Alström syndrome as an illustrative example.

Abstract excerpt

The increased frequency of rare autosomal recessive conditions in genetically isolated populations is a well-established phenomenon. This genetic isolation is invoked as an explanation when one particular mutation is the sole or most frequent mutation observed in a given population and is referred to as the founder effect. This trend of allelic homogeneity is contrasted by an opposite trend when the consanguinity...

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