The peopling of modern Bosnia-Herzegovina: Y-chromosome haplogroups in the three main ethnic groups.

The variation at 28 Y-chromosome biallelic markers was analysed in 256 males (90 Croats, 81 Serbs and 85 Bosniacs) from Bosnia-Herzegovina. An important shared feature between the three ethnic groups is the high frequency of the "Palaeolithic" European-specific haplogroup (Hg) I, a likely signature of a Balkan population re-expansion after the Last Glacial Maximum. This haplogroup is almost completely represented by the sub-haplogroup I-P37 whose frequency is, however, higher in the Croats (approximately 71%) than in Bosniacs (approximately 44%) and Serbs (approximately 31%). Other rather frequent haplogroups are E (approximately 15%) and J (approximately 7%), which are considered to have arrived from the Middle East in Neolithic and post-Neolithic times, and R-M17 (approximately 14%), which probably marked several arrivals, at different times, from eastern Eurasia. Hg E, almost exclusively represented by its subclade E-M78, is more common in the Serbs (approximately 20%) than in Bosniacs (approximately 13%) and Croats (approximately 9%), and Hg J, observed in only one Croat, encompasses approximately 9% of the Serbs and approximately 12% of the Bosniacs, where it shows its highest diversification. By contrast, Hg R-M17 displays similar frequencies in all three groups. On the whole, the three main groups of Bosnia-Herzegovina, in spite of some quantitative differences, share a large fraction of the same ancient gene pool distinctive for the Balkan area.

Premature termination codon in the aggrecan gene of nanomelia and its influence on mRNA transport and stability.

AIM: To analyze the influence of the premature termination codon on mRNA transport and stability METHODS: Chondrocyte mRNA was isolated from homozygous and heterozygous nanomelic 17-days old embryos and examined by RT-PCR analysis. To analyze aggrecan mRNA stability, mRNA synthesis was inhibited with DRB [5,6 dichloro-1-(-D-ribofuranosyl benzimidazole)], a specific inhibitor of RNA polymerase II. Visualization of the aggrecan alleles was performed by in situ hybridization. RESULTS: The level of mutant aggrecan mRNA within the nucleus was equal to that of the control, but no mutant mRNA was observed in the cytoplasm. RT-PCR revealed that the mutant transcript was only detectable in the nucleus, compared with house-keeping glyceraldehyde-3-phosphate dehydrogenase (GAPDH) gene or collagen type II. A restriction site induced by premature termination codon TAA allowed the distinction of normal and mutant transcripts in chondrocytes derived from embryos heterozygous for the nanomelic mutation. After the treatment with DRB, identical decay rates were demonstrated for both transcripts within the heterozygous nucleus. In situ hybridization showed no abnormal mRNA accumulation. CONCLUSION: This is the first evidence suggesting that the transcript of the mRNA with the premature termination codon within an exon does exit the nucleus.

A case of syphilitic interstitial pulmonary fibrosis.

Diagnosis of late pulmonary syphilis was made in a 72-year old woman on the basis of her medical history of untreated genital syphilis, serological and radiological findings, and the response to therapy. The diagnosis was confirmed two years later by autopsy findings. There was a good correlation between chest x-ray radiography, computed tomography scans, and autopsy findings. In the diagnosis of sarcoidosis and other diseases with similar radiological interstitial lung pattern, syphilitic interstitial pulmonary fibrosis should be carefully excluded.

Allele frequencies of six highly polymorphic DNA loci in the Croatian population.

The allele frequency distributions in a series of Croats were analyzed for six unlinked polymorphic DNA loci: THO1, FESFPS, VWA01, APOB, D1S80, and D17S5. The allele frequencies were determined for 100 unrelated genomic DNA samples. The observed heterozygote frequencies of the loci ranged from 0.63 to 0.76; however, the the expected heterozygosity ranged from 0.68 to 0.82, with only D17S5 having a significant excess of homozygous phenotypes (p < 0.001). The excess homozygosity seen in the D17S5 system may be due to allelic drop-out and warrants further technical analysis of that system, given the uniform lack of significant deviation in the other five systems. The forensic usefulness of these systems can be measured using two different statistics: the power of discrimination and the likelihood of a coincidental match. The power of discrimination ranged from 0.85 to 0.94 for the 6 systems with the combined likelihood of a coincidental match based on these 6 systems of 1 in 3.6 million, or slightly less than the population of Croatia. A second, more conservative estimator of the likelihood of a match is based on the most common phenotype for each system. If someone had the most common phenotype for each of the 6 systems, the chance of a coincidental match would be approximately 1 in 64,000. For paternity testing the usefulness of a system is measured by the average power of exclusion or (1-power of exclusion), the random man not excluded. The average power of exclusion, based on observed heterozygosity, ranged from 0.33 to 0.53, and the average power of exclusion based on the expected heterozygosity ranged from 0.39 to 0.64. The combined average power of exclusion was 99.2% for these 6 systems, using the expected heterozygosity. Based on the results of testing these six systems, there is no significant substructuring within the southern Croatian populations, and these systems provide a useful tool for forensic, paternity, and anthropological applications.