Naslov
Clinical and genetic study of neurofibromatosis type 1 in Croatia

Autori
Kapitanović, Helena ; Kapitanović, Sanja ; Čačev, Tamara ; Pavelić, Krešimir ; Sabol, Zlatko.

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

Izvornik
European Journal of Human Genetics / ICHG - Beč : Nature publishing group, 2001

Skup
10th International Congress of Human Genetics

Mjesto i datum
Beč, Austrija, 15.05.2001. - 19.05.2001

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
NF1; LOH

Sažetak
Neurofibromatosis type 1 (NF1) is the common autosomal dominant disorder of humans appearing in childhood. Features defining the disease are multiple cafe-au-lait spots, multiple neurofibromas and Lisch nodules, but other features such as short stature, intellectual handicap, central-nervous tumors and other malignant diseases are also found. The gene NF1 was mapped to 17q11.2 and has been found to contain the mutations in NF1 patients. The mutation rate in the NF1 gene is one of the highest known for human genes with approximately 50% of all NF1 patients presenting as sporadic cases. Molecular analysis and genetic counseling is limited to the identification of the specific mutation in each patient or family or to the use of DNA polymorphisms and linkage analysis. We analysed 46 families with neurofibromatosis type 1. NF1 was diagnosed clinically according to the NIH criteria. A positive family history was found in 47.8% (22 of 46) and 52.2% (24 of 46) of affected patients were considered to be the result of a new mutation. DNA was obtained from peripheral blood of patients and related individuals. We used PCR-RFLP and VNTR analysis for linkage and LOH analysis in the affected families and individuals. Twenty-four families in Croatia population with the "de novo" mutation were studied using four intragenic markers. For VNTR analysis PCR products were separated on polyacrylamide gels or were analysed by submerged gel electrophoresis. LOH on the affected individual revealed a gross NF1 gene deletion in 3 (13.6%) families ; in 2 (67%) of them, the deletion was maternally and in one (33%) paternally derived.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA