Naslov
Molecular Diagnostics of Neurofibromatosis Type 1
(Molecular diagnostics of neurofibromatosis type 1)

Autori
Kapitanović, Sanja

Izvornik
Periodicum biologorum (0031-5362) 100 (1998), 3; 325-330

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Molecular diagnostics; Neurofibromatosis Type 1
(molecular diagnostics; neurofibromatosis type 1)

Sažetak
Neurofibromatosis type 1 (NF1), also called von recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterized by multiple neurofibromas, cafe au lait spots and Lisch nodules of the iris, with a variable clinical expression. The gene responsible for this condition, NF1, has been isolated by positional clonong. It spans over 350 kb genomic DNA and encodes an mRNA of 11-13 kb containing at least 59 exons. The identification of somatic mutations in NF1 from tumor tissues strongly supports the speculation that NF1 is a member of the tumor suppressor gene family. The protein encoded by NF1, neurofibromin, has a domain homologous to the GTPase activating protein (GAP) family, and downregulates ras activity. Because of the large size and comlex organization of the gene specific NF1 germline mutations were identified in only approximately 70% of the NF1 patients studied. The molecular diagnosis of NF1 is based on linkage studies with available DNA markers. With the availability of closely linked and intragenic markers, it is possible to provide prenatal and presymptomatic testing for NF1.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti

POVEZANOST RADA