Autozomálně recesivní etnické choroby českých Romů

Autosomal Recessive Ethnical Diseases of Czech Roma

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. 

Key words:
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.