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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1.
Kalaydjieva L, Gresham D, Calafell F. Genetic studies of the Roma (Gypsies): a review. BMC Med Genet [Internet]. 2001 Apr 2 [cited 2021 Apr 11];2:5. Available from: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC31389/
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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1.
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.
