Roma (Gypsy ethnic) form a genetically isolated ethnical group of the identical origin with the world population of
10 to 14 millions derived from a limited number of so-called founders. Majority (about 8 millions) of Roma ethnic
live in Europe, namely at Balkan and in the southwest of Europe. Roma have specific hereditary diseases, namely those
caused by recessive genetic mutations. The molecular-genetic mechanism has been recently elucidated and confirmed
in several diseases of the Roma population. Owing to the significant proportion of Roma in the population,
patients with those diseases are possible to meet also in the Czech Republic. However, the diagnostics of those diseases
is frequently difficult and they are often under diagnosed or misdiagnosed. The article gives examples of autosomal
recessive diseases, which can be confirmed at the DNA level which occur in Roma population of the Czech
Republic: syndrome of congenital cataract, facial dysmorphism and demyelinating neuropathy, non-syndromic prelingual
deafness with GJB2 gene impairment and the congenital myastenic syndrome.
syndrome of congenital cataract, facial dysmorphism and demyelinating neuropathy, congenital myastenic
syndrome, non-syndromic pre-lingual deafness due to GJB2 gene impairment, founder, Roma, Gypsy.