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Genetics of sporadic neurofibromatosis type 1 (NF1) in the Croatian population (CROSBI ID 509925)

Prilog sa skupa u časopisu | sažetak izlaganja sa skupa | međunarodna recenzija

Kapitanović, Sanja ; Kapitanović, Helena ; Sabol, Zlatko ; Pavelić, Krešimir Genetics of sporadic neurofibromatosis type 1 (NF1) in the Croatian population // European journal of human genetics / ESHG (ur.). 2000. str. 150-x

Podaci o odgovornosti

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

engleski

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

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.

NF1; genetics

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Podaci o prilogu

150-x.

2000.

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objavljeno

Podaci o matičnoj publikaciji

European journal of human genetics

ESHG

Amsterdam: European Human Genetics Conference

1018-4813

Podaci o skupu

European Human Genetics Conference 2000

poster

27.05.2000-30.05.2000

Amsterdam, Nizozemska

Povezanost rada

Temeljne medicinske znanosti

Indeksiranost