Naslov
Real-time PCR SNP analysis in molecular diagnostics of neurofibromatosis type 1

Autori
Kapitanović, Sanja ; Čačev, Tamara ; Kapitanović Vidak, Helena ; Pavelić, Krešimir

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

Izvornik
Abstracts of the European Human Genetics Conference 2004 in European Journal of Human Genetics / European Society of Human Genetics - München : Nature publishing group, 2004, 210-210

Skup
European Human Genetics Conference 2004

Mjesto i datum
München, Njemačka, 12.06.2004. - 15.06.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
SNP analysis; NF1 gene

Sažetak
Neurofibromatosis type 1 (NF1) is one of the most common human autosomal dominant disorders. NF1 has been expressed with various and heterogenous clinical manifestations and serious complications. The gene for neurofibromatosis type 1 (NF1) was mapped to chromosome 17 by positional cloning and has been found to contain mutations in NF1 patients. It exhibits full penetrance and a high mutation rate. Thirty to 50% of NF1 patients represent new sporadic cases and usually new mutations. 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 in linkage analysis and detection of large de novo deletions. We analyzed 50 families with neurofibromatosis type 1. NF1 was diagnosed clinically according to the NIH criteria. DNA was obtained from peripheral blood of patients and related individuals. We used real-time PCR SNP analysis for linkage analysis and detection of large de novo deletions in the affected families and individuals. Fifthy families in the Croatian population were studied using three SNP intragenic NF1 markers. The informativities of these three markers were: C_2557613_10 (rs2953014) 42%, C_2533294_1 (rs2070733) 57% and C_16032374_10. (rs2107359) 43%. The large de novo deletions were found in 3 families with the sporadic NF1.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti

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