engleski

Croatian report on mutations and polymorphisms related to congenital disorder of glycosylation Ia (CDG-Ia)

CDG-Ia is the most common type of CDGs, a growing group of rare genetic disorders characterized by deficient protein glycosylation. It is caused by specific mutations in phosphomannomutase 2 gene (PMM2) ; the most frequent ones in European population are R141H and F119L. However, the variations in the frequencies of these mutations were observed among the populations of different geographic origin. Although no CDG-Ia patient is detected in Croatia so far, the necessity of revealing genetic characteristics of our population encouraged us to determine the frequencies of mutations R141H and F119L and intragenic SNPs, IVS5+19T/C and IVS5+22T/A in PMM2 gene in Croatian population. For screening target mutations, single-strand conformation polymorphism (SSCP) analysis was used. All samples showing aberrant SSCP patterns and adequate number of randomly chosen ones with normal pattern were additionally sequenced. No mutations R141H and F119L neither allele IVS5+22A have been detected. The estimated frequency of IVS5+19T allele was 0.958 and IVS5+19C allele was 0.042, while the estimated incidence of heterozygotes for IVS5+19T/C was 0.06. Although the absence of both mutations (R141H and F119L) and the estimated allele frequencies of intragenic SNP IVS5+19T/C in analyzed series suggest specificity of the Croatian population regarding these mutations/SNP comparing to other European populations, bigger population sample has to be analyzed to provide a final conclusion.

glycosylation; CDG-Ia; mutation; polymorphism

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