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.

Kalaydjieva et al. BMC Medical Genetics 2001 2:5   doi:10.1186/1471-2350-2-5

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