Naslov
Genetics of sporadic neurofibromatosis type 1 (NF1) in the Croatian population

Autori
Kapitanović, Sanja ; Kapitanović, Helena ; Sabol, Zlatko ; Pavelić, Krešimir

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

Izvornik
European Journal of Human Genetics / ESHG - Amsterdam : European Human Genetics Conference, 2000

Skup
European Human Genetics Conference 2000

Mjesto i datum
Amsterdam, Nizozemska, 27.05.2000. - 30.05.2000

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NF1; genetics

Sažetak
Sporadic neurofibromatosis type 1(NF1)occurs in the absence of a family history of the disease and usually results from new mutation in the germ cell of one of the parens. The gene for NF1 was mapped to chromosome 17 by linkage analysis and has been found to contain mutations in NF1 patients. 22 families in the Croatian population with the de novo mutation were studied with 3 intragenic markers (VNTR analysis). DNA was obtained from pheripheral blood of patients and their relatives. For VNTR analysis PCR products were separated on PAA gels or were analyzed by submerged gel electrophoresis. The pathological lesion was identified in 4 cases. LOH in the affected individual revealed a gross gene deletion in 4 families ; in 2 (50%) of them, the deletion was maternally derived and in 2 (50%) paternally derived. This preliminary study showed that, in Croatian population, the gross deletion of the NF1 gene in sporadic cases of NF1 occured in 18, 2% of the families and in the same frequencies in the male and female germlines.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA