Naslov
Novel polymorphisms/mutations in ALG6 gene

Autori
Supraha Goreta, Sandra ; Dabelic, Sanja ; Dumic, Jerka

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

Skup
Sixth International Glycosyltransferses 2008 Conference (GlycoT2008)

Mjesto i datum
Atlanta (GA), Sjedinjene Američke Države; Gruzija, 17.05.2008. - 20.05.2008

Vrsta sudjelovanja
Predavanje

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
congenital disorders of glycosylation; CDG-Ic; polymorphysms; mutations; ALG6 gene

Sažetak
Congenital disorders of glycosylation (CDGs) are a growing group of genetic disorders caused by deficient assembly or processing of glycoproteins, reflecting in wide clinical spectrum. The second most frequent type of CDGs, CDG-Ic is caused by mutations in ALG6 gene that encode Man9GlcNAc2-PP-Dol α 1, 3-glucosyltransferase. The frequencies of heterozygotes for specific mutations, as well as CDG patients are specific for every population. Until now no patient with CDG syndrome affecting N-glycosylation was detected in Croatia. The aim of this study was to determine the frequencies of various mutations/polymorphisms in ALG6 gene in the population of Croatia. For determination of the frequency of A333V mutation, SSSP analysis was optimized. Although it is mutation of European origin, no heterozygote with A333V mutation was found in 600 analyzed samples representing population of Croatia. For determination of the frequencies of polymorphisms of ALG6 gene, Y131H (391T>C in exon 5) and F304S (998T>C in exon 10) real-time PCR (TaqMan SNP Genotyping Assay) was used. The frequency of F304S polymorphism was shown to be similar to the frequencies found in other tested populations (29%). The applied assay was shown not to be the most appropriate method for Y131H genotyping therefore the frequency of Y131H polymorphism was determined by sequencing analysis and it was shown to be 3 times higher than in the States (6.7%). In exon 5 of ALG6 gene novel polymorphisms were found: 383T C, 390G>A and 429G C and in downstream intervening sequence of exon 5 novel polymorphisms IVS5+17C>T and IVS5+34G>A was detected.

Izvorni jezik
Engleski

Znanstvena područja
Biologija

POVEZANOST RADA