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.
DisorderОМИМ*InheritanceMapГенMutation
Расположение
Primary congenital231300А.Р.2p21CYP1B1E387K
Glaucoma
Galactokinase230200А.Р.17q24GK1P28T
Deficiency
Polycystic kidney173900ОБЪЯВЛЕНИЕ.4q21-q23PKD2R306X**
Disease
Hereditary motor and601455А.Р.8q24NDRG1R148X
Sensory neuropathy-Lom
Hereditary motor and605285А.Р.10q23
Sensory neuropathy-Russe
Congenital cataracts facial604168А.Р.18qter
dysmorphism neuropathy
  • Reported carrier rates for single gene disorders among the Roma
DisorderCountryGeneralHigh-risk
Romagroups
Primary congenital glaucomaSlovakia5%*11%
GalactokinaseBulgaria2%*4%-5%
Deficiency
Autosomal dominant polycysticHungary2.4%
kidney disease
Hereditary motor and sensoryBulgaria*2%*20%
neuropathy-Lom
Limb girdle muscular dystrophy**Bulgaria2%6%
type 2C
MCAD deficiency***Spain*2.5%-10%
PhenylketonuriaCzecho6%
slovakia
Oculocutaneous albinismSpain3.4%
Fraser syndromeSpain2.7%
Epidermolysis bullosaSpain2.4%
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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.

Población norteafricana.

The Moroccan Genetic Disease Database.