Naslov
Mendelian Disorders of the Bayash Roma in Croatia

Autori
Barešić, Ana ; Peričić Salihović, Marijana

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, ostalo

Izvornik
Final Program and abstracts of the 7th ISABS conference in forensic, anthropological and medical genetics and Mayo clinic lectures in translational medicine / Schanfield, Moses ; Primorac, Dragan ; Vuk-Pavlović, Stanimir - Zagreb : International Society for Applied Biological Sciences (ISABS), 2011, 242-242

Skup
Fifth Croatian Human Genetic Conference

Mjesto i datum
Bol, Hrvatska, 20.06.2011. - 22.06.2011

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
Bayash; Vlax Roma; Mendelian disorders; rare diseases; founder effect

Sažetak
Numerous small groups of Roma people have been shown to share unique private disease-causing mutations ; in this study we investigated four such disease loci to establish the influence of the founder effect on the genetic load of these disorders in the Croatian Bayash Roma populations. We analysed 426 Bayash Roma from two regions in Croatia, Baranja in Eastern and Me􀃿imurje in North-western Croatia. PCR-based RFLP assays were used to detect the mutations which were then confirmed by sequencing. Carriers were detected for hereditary motor and sensory neuropathy – type Lom in the Baranja community, while there was no presence for the remaining three diseases noted. Carrier rate for the HMSNL in Baranja region is 1, 5%. The genetic load of private disease-causing mutations is evidently decreased in the Croatian Bayash compared to other Vlax Roma groups. This difference could have arisen due to the various factors e.g. high genetic load in other Vlax groups could be a consequence of strict endogamy rules widely practiced after the Bayash left Romania, what would then not be reflected in their Croatian community, or the ancestors of the Croatian Bayash were not in close contact with the high risk groups during the slavery period in Romania.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Etnologija i antropologija

POVEZANOST RADA