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Pregled bibliografske jedinice broj: 211073

Zbornik radova

Autori: Kapitanović, Sanja; Kapitanović, Helena; Sabol, Zlatko; Pavelić, Krešimir
Naslov: Genetics of sporadic neurofibromatosis type 1 (NF1) in the Croatian population
Izvornik: European Journal of Human Genetics / ESHG (ur.). - Amsterdam : European Human Genetics Conference , 2000. 150.
ISSN: 1018-4813
Skup: European Human Genetics Conference 2000
Mjesto i datum: Amsterdam, Nizozemska, 27.-30.05.2000.
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.
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bazama podataka:
Current Contents Connect (CCC)
MEDLINE
Scopus
SCI-EXP, SSCI i/ili A&HCI
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Vrsta sudjelovanja: Poster
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 0098108
Izvorni jezik: ENG
Kategorija: Znanstveni
Znanstvena područja:
Temeljne medicinske znanosti



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