OP07. PHENYLKETONURIA IN SERBIA AND MONTENEGRO
A. STEVANOVIC 1, M. Stojiljkovic 1, B. Petrucev 1, N. Tosic 1, T. Karan Djurasevic 1, T. Kostic 1, M. Djordjevic 2, Lj. Stojanov 2, S. Pavlovic 1 1. Institute of Molecular Genetics and Genetic Engineering, Belgrade, Serbia and Montenegro 2. Mother and Child Healthcare Institute "Dr Vukan Cupic", Belgrade, Serbia and Montenegro email: zmzg@sezampro.yu
*Corresponding Author:
page: 38

Abstract

The incidence of phenylketonuria (PKU) in Serbia and Montenegro is 1:12300 newborns. We present the report on phenylalanine hydroxylase (PAH) gene mutations and genotype-phenotype correlation in PKU patients from Serbia and Montenegro. According to pretreatment serum phenylalanine level, 34 unrelated patients were assigned to classic PKU (65%), mild PKU (35%) and MHP (0%). By using both PCR-RFLP and 'broad range' DGGE/DNA sequencing analysis, 19 mutations were identified (13 missense, 3 nonsense, 2 splice and 1 frameshift-del). Mutation detection rate was 97%. The most frequent mutations were: L48S (21%), R408W (18%), P281L (9%), E390G (7%) and R261Q (6%), accounting for 60% of all mutant alleles. The remaining ones (R158Q, I306V, IVS12+1G>A, Q20X, R111X, V177L, P225T, R261X, L15/S16fsCTdel, S231F, R252Q, R297H, IVS10-11G>A and R413P) occurred at frequency less then 5%. Calculated homozygosity value was rather low (0.10), indicating the heterogeneity of populatio n. This finding reflects numerous migrations over the Southeastern Europe. The genotype-phenotype correlation was studied in homozygous and functionally hemizygous patients. The phenotypic inconsistency of the mutation L48S, the most frequent one in Serbia and Montenegro, was reported in previous European studies. To the contrary L48S was exclusively associated with the classical PKU phenotype in our study. Consistent severe phenotype of L48S could be a consequence of independent modulatory genetic factors specific for the population. The characterization of PAH mutations created the base for molecular diagnostics and genetic counseling of phenylketonuria in Serbia and Montenegro.




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