Ivana Furač

Serotonin transporter gene promoter (5-HTTLPR) and intron 2 (VNTR) polymorphisms in Croatian suicide victims

BACKGROUND Disturbances in serotonin (5HT) transmission are the most frequently reported neurobiological substrates of suicidal behavior. Because 5HT transporter plays a central role in the regulation of 5HT synaptic function and its gene contains two functional polymorphisms (5-HTTLPR in the promoter region and VNTR in the second intron), it represents an interesting candidate for association studies in suicidal behavior. METHODS In this study, a possible association of 5-HTTLPR and intron 2-VNTR polymorphisms of the 5HT transporter gene with suicidal behavior was investigated in a sample of 135 suicide victims and 299 healthy control subjects of Croatian/southern Slavic origin. RESULTS There were no significant differences in 5-HTTLPR and intron 2-VNTR genotype- and allele- frequency distributions between suicide victims and healthy control subjects; however, a tendency toward an increase of 5-HTTLPR allele L and VNTR-allele 10 were observed in suicide group. Analysis of distribution of estimated haplotype frequencies revealed differences between suicide victims and control subjects, with an excess of haplotype L10 among suicide victims (p =.0112). CONCLUSIONS Our results provide modest evidence for a possible association of the 5HT transporter gene with a completed suicide. Further studies are needed to determine whether alterations in 5HTt gene expression are involved in suicidal behavior.

Allele frequencies of the 15 AmpFlSTR Identifiler loci in the population of Vojvodina Province, Serbia and Montenegro

The 15 AmpFlSTR Identifiler loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) were analyzed in the sample of 100 unrelated, autochthonous healthy adult Serbians from Novi Sad (Vojvodina Province, Serbia and Montenegro). The agreement with HWE was confirmed for all loci with the exception of D7S820 (based on the χ2-test only). The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 tested STR loci were 0.99999999999999995 and 0.9999990, respectively. According to the presented data, D2S1338 and D18S51 are the most informative markers. Based on allelic frequencies and statistical parameters for forensic testing, it may be suggested that the AmpFlSTR Identifiler detection system represents a powerful strategy for individual identification and parentage analysis in the Serbian population.

Multiplex PCR amplification of eight STR loci in Austrian and Croatian Caucasian populations

Abstract Austrian and Croatian Caucasian population data were generated for eight tetrameric STR loci amplified in a single multiplex reaction. Fluorescent detection was employed using the ABI Prism 310 Genetic Analyzer, the 377 DNA Sequencer (ABI) and the 373A DNA Sequencer (ABI). The loci analyzed were HUMvWFA31 (vWA), HUMTH01, HUMTPOX, HUMCSF1PO, D5S818, D13S317, D7S820 and D16S539 as part of the GenePrint PowerPlex multiplex system.

Sequence polymorphism of the mitochondrial DNA control region in the population of Vojvodina Province, Serbia

In order to generate and establish the database for forensic identification purposes in Vojvodina Province (Serbia), the sequence of the hypervariable regions 1 (HV1) and 2 (HV2) of the mtDNA control region were determined in a population of 104 unrelated individuals from Vojvodina Province, using a fluorescent-based capillary electrophoresis sequencing method. A total of 93 different haplotypes were found, of these 83 mtDNA types were unique, nine haplotypes were shared by two individuals and one haplotype by three individuals. The variation of mtDNA HV1 and HV2 regions was confined to 116 nucleotide positions, of which 72 were observed in the HV1 and 44 in the HV2. A statistical estimate of the results for this population showed the genetic diversity of 0.9977 and the random match probability of 1.18%. Haplogroup H was the most common haplogroup (43.3%). Haplogroups observed at intermediate levels included clusters U (13.5%), T (10.6%), J (8.6%) and W (5.8%).

Short tandem repeat polymorphism at the HUMCD4 and HUMF13B loci in a Croatian population.

Abstract Population studies were carried out on unrelated individuals of Croatian ancestry. Genomic DNA was amplified by the polymerase chain reaction (PCR) at the polymorphic microsatellite loci HUMCD4 (n = 105 individuals) and HUMF13B (n = 108 individuals). After horizontal polyacrylamide gel electrophoresis followed by silver staining 6 alleles and 12 genotypes were observed for HUMCD4 and 6 alleles and 13 genotypes could be identified for HUMF13B. Data obtained were in concordance with the prediction of Hardy-Weinberg equilibrium. The allele frequency data were compared with Austrian and Italian population samples and no significant deviations between these populations were observed.

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

Abstract 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.