Genetic studies of the Roma (Gypsies): a review

BMC Medical Genetics

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

Disorder	Country	General	High-risk	Ref.
		Roma	groups
Primary congenital glaucoma	Slovakia	5%	*11%	45,54
Galactokinase	Bulgaria	2%	*4%-5%	44
Deficiency
Autosomal dominant polycystic	Hungary		2.4%	17
kidney disease
Hereditary motor and sensory	Bulgaria	*2%	*20%	37,39
neuropathy-Lom
Limb girdle muscular dystrophy	**Bulgaria	2%	6%	93,66
type 2C
MCAD deficiency	***Spain		*2.5%-10%	53
Phenylketonuria	Czecho	6%		94
	slovakia
Oculocutaneous albinism	Spain	3.4%		49
Fraser syndrome	Spain	2.7%		47
Epidermolysis bullosa	Spain	2.4%		49

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.

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