Naslov
Mutation analysis of the MPZ and PMP22 genes in Croatian patients

Autori
Gršković, Branka ; Ferenčak, Goran ; Stavljenić Rukavina, Ana ; Karija, Monika ; Furač, Ivana ; Kubat, Milovan

Izvornik
Clinical chemistry and laboratory medicine (1434-6621) 40 (2002), 6; 559-562

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

Sažetak
We used single-strand conformation polymorphism analysis for mutational screening in two candidate genes, MPZ and PMP22, which have an important role in the pathogenesis of Charcot-Marie-Tooth disease (CMT) and related peripheral neuropathies. A novel Ser8Ser polymorphism was found in exon 1 of the MPZ gene in two heterozygous subjects, in a father with mild CMT2 phenotype and his daughter with normal clinical data. Thr118Met polymorphism was found in exon 5 of the PMP22 gene. The patient heterozygous for 118Met allele had CMT1 disease. We can conclude that the occurrence of the 118Met allele does not usually cause CMT1 and that it is not a clinically relevant disease marker.

Izvorni jezik
Hrvatski

Znanstvena područja
Temeljne medicinske znanosti

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