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Table 3 Reported carrier rates for single gene disorders among the Roma

From: Genetic studies of the Roma (Gypsies): a review

Disorder Country General High-risk Ref.
   Roma groups  
Primary congenital glaucoma Slovakia 5% *11% 45,54
Galactokinase Bulgaria 2% *4%-5% 44
Autosomal dominant polycystic Hungary   2.4% 17
kidney disease     
Hereditary motor and sensory Bulgaria *2% *20% 37,39
Limb girdle muscular dystrophy **Bulgaria 2% 6% 93,66
type 2C     
MCAD deficiency ***Spain   *2.5%-10% 53
Phenylketonuria Czecho 6%   94
Oculocutaneous albinism Spain 3.4%   49
Fraser syndrome Spain 2.7%   47
Epidermolysis bullosa Spain 2.4%   49
  1. Most estimates are based on prevalence figures. *Carrier rates determined through direct mutation detection are indicated in red. **The LGMD2C carrier rates for the general Romani population of Bulgaria are probably an overestimate since the screening was conducted in a geographical region where the high risk groups are clustered. ***The screening for the G985 mutation in Spain, performed in Gypsy groups residing in different parts of the country, revealed substantial differences between groups.