En nuestro ámbito geográfico existen dos poblaciones minoritarias que son de interés desde el punto de vista genético, principalmente por haber practicado históricamente la endogamia y presentar elevada consanguinidad , y por haber padecido cuellos de botella genéticos que han dado lugar al efecto fundador en algunas enfermedades.
Enfermedades mendelianas causadas por mutaciones privativas con efecto fundador en la población gitana.
Disorder OMIM* Inheritance Map Gene Mutation Location Primary congenital 231300 AR 2p21 CYP1B1 E387K Glaucoma Galactokinase 230200 AR 17q24 GK1 P28T Deficiency Polycystic kidney 173900 AD 4q21-q23 PKD2 R306X** Disease Hereditary motor and 601455 AR 8q24 NDRG1 R148X Sensory neuropathy-Lom Hereditary motor and 605285 AR 10q23 Sensory neuropathy-Russe Congenital cataracts facial 604168 AR 18qter dysmorphism neuropathy
Reported carrier rates for single gene disorders among the Roma
Disorder Country General High-risk Roma groups Primary congenital glaucoma Slovakia 5% *11% Galactokinase Bulgaria 2% *4%-5% Deficiency Autosomal dominant polycystic Hungary 2.4% kidney disease Hereditary motor and sensory Bulgaria *2% *20% neuropathy-Lom Limb girdle muscular dystrophy **Bulgaria 2% 6% type 2C MCAD deficiency ***Spain *2.5%-10% Phenylketonuria Czecho 6% slovakia Oculocutaneous albinism Spain 3.4% Fraser syndrome Spain 2.7% Epidermolysis bullosa Spain 2.4%
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Además de los cuadros anteriores, también hay descrita una forma de miastenia congénita que es más frecuente en la población gitana que en la población general, en particular la mutación epsilon1267delG en el gen de la subunidad epsilon del receptor de acetilcolina (AChR).
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Abicht A, Stucka R, Karcagi V, Herczegfalvi A, Horváth R, Mortier W, et al. A common mutation (epsilon1267delG) in congenital myasthenic patients of Gypsy ethnic origin. Neurology. 1999 Oct 22;53(7):1564–9.
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