Functional promoter polymorphism of the neuronal isoform of tryptophan hydroxylase (Tph2) in suicide

The association between suicide and G-703T polymorphism of the tryptophan hydroxylase 2 (TPH2), the rate-limiting enzyme in the biosynthesis of the neurotransmitter serotonin, was studied in a sample of 291 suicide victims and 280 healthy subjects of Croatian origin. No significant differences were found between the groups. Obtained results do not support involvement of the investigated polymorphism in the susceptibility to suicide completion

Clinical Case of Acral Hemorrhagic Darier\u27s Disease is not Caused by Mutations in Exon 15 of the ATP2A2 Gene

Darier\u27s disease (Dyskeratosis follicularis, DD) is a genetic disorder characterized by pathogenetic changes of keratinization with variant forms of cutaneous phenotype. Recently, it has been showed that Darier\u27s disease cause mutations in the ATP2A2 gene, at 12q24.1. The gene encodes sarco-endoplasmic reticulum calcium ATPase type 2 (SERCA2). Mutations in exon 15 are reported to be the most consistent mutations associated with the acral hemorrhagic type of Darier\u27s disease. By direct sequencing we investigated exon 15 of the ATP2A2 gene in a Croatian family in which one member had a hemorrhagic Darier\u27s disease, but did not record any mutation in the family we investigated. Our results show that mutations in exon 15 of the ATP2A2 gene are not a necessary prerequisite for acral hemorrhagic type of Darier\u27s disease. Our finding support the variability of clinical manifestations of Darier\u27s disease and lack of genotype/phenotype consistency

The Incidence of Dental Identifications from Mass Graves in Croatia

U ovome radu prikazani su rezultati i postupci dentalnih identifikacija na 523 trupla ekshumiranih do lipnja godine 1996. Postupak identifikacije bio je proveden u Zavodu za sudsku medicinu i kriminalistiku Medicinskog fakulteta u Zagrebu. Forenzički stomatolog sudjelovao je u postupku identificiranja na temelju raščlambe zubala. Sva orodentalna obilježja pomno su se obilježila u Interpolove obrasce za unos poslijesmrtnih dentalnih obilježja te u računalni program CAPMI 4. Forenzička raščlamba genomske i mitohondrijske DNA, koja se temelji na postupku lančane reakcije polimeraze (PCR), provedena je na uzorcima iz stanica zubnih tkiva u onim slučajevima kada su ostali tradicionalni forenzički postupci bili nedostatni i neuspješni. Do mjeseca lipnja godine 1996. u Republici je Hrvatskoj ekshumirano 523 trupla ubijenih ljudi : 412 muškaraca (78,77%) i 111 žena (21,23%). Ukupno je bilo identificirano 381 truplo (72,84%), a 142 trupla (27,16%) ostala su neidentificirana. Zubna identifikacija temeljena na poznatim prijesmrtnim dentalnim obilježjima postignuta je u 23,88% slučajeva. Najviše je identifikacija postignuto na temelju usporedbe sa zubnim kartama (35%), rendgenske snimke pomogle su i indentifikaciji 15% trupla, fotografije u 22% slučajeva, razgovori s članovima obitelji pomogli su u identificiranju 18% slučajeva, a samo se je 10% slučajeva riješilo s pomoču zaživotnih stomatologa koji su prepoznali svoje stomatološke zahvate. Zubi u kombinaciji s antropološkim parametrima - dob, spol, visina uz neke druge specifične parametre kao što su tetovaza, osobni dokumenti, nakit i DNA raščlamba - pripomogli su u još 60,64% slučajeva, ali nisu bili dominantni zbog nepostojanja prijesmrnih podataka. Samo u 15,48%% slučajeva zubi nisu poslužili u postupku identifikacije, već je ona postignuta na temelu drugih vjerodostojnih podataka. Danas na kraju XX. stoljeća susreli smo se s do sada najvećim zahvatom uforenzičkoj stomatologiji u kojem se gotovo danomice educiramo na novim slučajevima. Identifikacijski se postupak nastavlja kako bi se pronašlo i identificiralo još 2.197 ljudi koji se vode nestalim od trenutka napada na Republiku Hrvatsku.The paper presents the results and procedure of identification of 523 bodies exhumed up until June 1996. The identification procedure was carried out in the Department o f Forensic Medicine and Criminology School of Medicine in Zagreb. A forensic dentist participated in the identification procedure, based on a breakdown of sets of teeth. All orodental characteristics were carefully registered in the Interpol forms for entry o f post-mortem dental characteristics, and in the CAPMI 4 computer programme. Forensic classification of genomic and mitochondrial DNA, based on the method of polymerase chain reaction (PCR), was carried out on the samples from dental tissue cells in cases when other traditional forensic methods were inadequate o f unsuccessful. Up until June 1996, 523 bodies had been exhumed in the Republic of Croatia: 412 men (78.77%) and 111 women (21.23%). A total o f 381 bodies (72.84%) were identified and 142 bodies (27.16%) remained unidentified. In 23.88% o f cases dental identification was achieved on the basis o f known dental features. The majority of bodies were identified by comparison with dental records (35%), X-rays helped in the identification of 15%, photographs in 22%, talks with members of the family helped in the identification o f 18% and 10% of cases were solved with the help of dentists, who recognised their own dental work. In combination with anthropological parameters - age, sex, height, together with other specific parameters, such as tattoos personal documents, jewellery and DNA classification, helped in another 60.64% o f cases, although they were not dominant due to the lack of data prior to their death. Teeth were o f no help no help in only 15.48% of cases. In such cases identification was made on the basis o f other reliable data. Today, at the end o f the 20th century, we are confronted with the greatest task ever in forensic dentistry, during which almost every day we come across new cases on which to learn. The identificationprocedure continues in order to find and identify a further 2.197 people^rep>orted missing during the attack on the Republic of Croatia

Evaluation of population variation at 17 autosomal STR and 16 Y-STR haplotype loci in Croatians

Seventeen autosomal STR loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, Penta E and Penta D) and 16 Y-STR haplotype loci (DYS19, DYS385, DYS389I, DYS398II, DYS390, DYS391, DYS392, DYS393, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were analyzed in the sample of 200 unrelated Croatians. The agreement with HWE was confirmed for all autosomal STR loci. The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 17 autosomal STR loci were 0.999999999999999999682299331476 and 0.99999995, respectively. Penta E proved to be the most informative autosomal STR locus. Among 200 Croatian males, 197 Y-STR haplotypes were identified and haplotype diversity was estimated at 0.9998±0.0005

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 2-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

Brief report Functional promoter polymorphism of the neuronal isoform of tryptophan hydroxylase (Tph2) in suicide

The association between suicide and G-703T polymorphism of the tryptophan hydroxylase 2 (TPH2), the ratelimiting enzyme in the biosynthesis of the neurotransmitter serotonin, was studied in a sample of 291 suicide victims and 280 healthy subjects of Croatian origin. No significant differences were found between the groups. Obtained results do not support involvement of the investigated polymorphism in the susceptibility to suicide completion

STR Polymorphisms in the Population of the Island of Hvar

The aim of this study is to analyze short tandem repeat (STR) variation using data on 9 loci (D3S1358, VWA, FGA, THOl, TPOX, CSF1PO, D5S818, D13S317, D7S820) from the subpopulations of 6 villages on the island of Hvar, Croatia. The STR data help us to analyze the genetic structure of Hvar. The analysis of STR data in this study indicated genetic homogeneity among the village subpopulations on Hvar and the lack of the so-called east-west dichotomy, which had been indicated by some previous multidisciplinary anthropological studies. The observed value of GST (0.030) is most probably a consequence of high STR mutation rates, which produce a high level of within-group (village) diversity relative to total diversity of the population. The validity of STR markers in assessing genetic structure of small populations and especially in determining the relationships among closely related and reproductively isolated groups remains to be further evaluated

Population genetics of the 15 AmpFlSTR Identifiler loci in Kosovo Albanians

The 15 AmpFlSTR Identifiler loci (D8S1179, D21S11, D7S820, CSF1PO, D3S1358, THO1, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818 and FGA) were analyzed in a sample of 136 unrelated Albanian adults from Kosovo. The agreement with HWE was confirmed for all loci with the exception of TPOX (based on the exact test only). The combined power of discrimination (PD) and the combined power of exclusion (PE) for the 15 studied loci were 0.99999999999999997 and 0.9999995, respectively. According to the presented data, FGA proved to be the most informative marker. An interpopulation comparison between Kosovo Albanians and Croatians (as an example of a population from the Balkans) revealed significant differences in four out of nine loci