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
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