Naslov
Screening for mutations in α 1, 3-glucosyltransferase (ALG6) gene

Autori
Novak, Ruđer ; Šupraha, Sandra ; Dumić, Jerka

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

Izvornik
1st MedILS Summer School, Structure and Evolution: from Bench to Terminal, Split, Croatia. Book of Abstracts / - , 2006

Skup
1st MedILS Summer School, Structure and Evolution: from Bench to Terminal

Mjesto i datum
Split, Hrvatska, 18.07.2006. - 22.07.2006

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
glycosylation; CDG; ALG6

Sažetak
Congenital disorders of glycosylation (CDGs) are a rapidly growing family of inherited metabolic disorders caused by defects in synthesis and processing of oligosaccharide chains of glycoconjugates. One of the most common types of CDGs is CDG Ic whivh is caused by mutations in ALG6 gene, encoding Man(9)GlcNAc(2)-PP-Dol alpha-1, 3-glucosyltransferase. The most frequent DNA changes of ALG6 gene are F304S polymorphism and Y131H and A333V mutations. Although CDG Ic is rather very rare disease, there is a high frequency of carrier heterozygotes in general population. However, that phenomenon is still not elucidated. Up to date, the frequency of these mutations has not been systematically investigated in Croatian population. The aim of our study is to investigate the frequencies of the mutations (Y131H and A333V) and polymorphism (F304S) in gene ALG6 in Croatian population and to explore the correlation between these mutations and certain pathological conditions (viral infections, colon cancer, autoimmune disorders etc.). Single strand conformation polymorphism (SSCP) analysis will be used to prescreen the mutations and the fragments with aberrant electrophoretic patterns will be additionally sequenced. The results of these studies will contribute to the better understanding of CDG Ic background and will expand our knowledge on these rare diseases.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

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