Article
High frequency of alkaptonuria in Slovakia: evidence for the appearance of multiple mutations in HGO involving different mutational hot spots.
American journal of human genetics - 1 Nov 2000
Zatková A, de Bernabé D B, Poláková H, Zvarík M, Feráková E, Bosák V, Ferák V, Kádasi L, de Córdoba S R
Abstract excerpt
Alkaptonuria (AKU) is an autosomal recessive disorder caused by the deficiency of homogentisate 1,2 dioxygenase (HGO) activity. AKU shows a very low prevalence (1:100,000-250,000) in most ethnic groups. One notable exception is in Slovakia, where the incidence of AKU rises to 1:19,000. This high incidence is difficult to explain by a classical founder effect, because as many as 10 different AKU mutations have...
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