Genetic profile of the Açores Archipelago population using the new PowerPlex 16 system kit

Allele and haplotype frequencies of 16 chromosome STR loci, 15 of them included in the Kit PowerPlex16 System from Promega were determined in a sample of unrelated males from the A?ores Archipelago. All subjects were subjected to an interview in order to make sure that their ancestors belonged to the same island at least back to three generations. This way we intended to look for possible inter-islands differences. PowerPlex16 includes STRs not studied before in the A?ores population. The Kit includes two new allele markers (Penta D and Penta E), which proved to be extremely useful for paternity testing (PD=0.921 and 0.971, respectively). The study revealed that the A?ores population is considerable different from the previous studied Madeira population, but does not differ from that of the north Portugal. Nevertheless, some loci presented alleles not previously reported for Portugal.     

DNA typing revealing high HLA-Cw polymorphism completes availability of major histocompatibility complex loci in forensic medicine

Studies of human population genetics in Hungary have revealed relevant heterogeneity in the major histocompatibility complex. In the present studies, two isolated ethnic groups were chosen: people living in the Káli Basin westward from the Danube River, and those living in Opusztaszer, a village eastward from Danube, who are known as native ancient Hungarians. Blood samples were collected from 70 people in the Káli Basin and from 45 people in Opusztaszer. The frequency of HLA-Cw alleles was determined by serology as well as by DNA typing in 46 and 32 samples of the two populations, respectively, and in 44 randomly selected subjects of Hungarian origin. Compared with a random population of cadaver donors (the deaths having resulted mostly from accidents or, in a smaller number, strokes or heart infarcts) and voluntary bone marrow donors (typed in the last 10 years) recruited from all parts of Hungary and representing the mixed Hungarian population, remarkable differences were found in haplotype and allele frequencies. HLA-A, -B, -Cw typing was performed by serology and, in the case of the HLA-Cw locus, by polymerase chain reaction (PCR)-SSP and/or PCR-SSOP techniques, as well. The PCR-SSO oligotyping procedure allowed the identification of 32 Cw alleles in contrast with the 9 serologically detectable types. Because of the combination of low antigen expression and the lack of specific serologic reagents of good quality, no HLA-Cw antigens were detectable in 41%, and only one was detected in 48%, of the investigated individuals by standard serologic typing. With PCR-SSO typing, however, 97% of the investigated individuals proved to be heterozygous for HLA-Cw alleles. The two isolated populations differed from each other, from mixed Hungarian and other Caucasian populations in HLA-Cw* allele frequencies, as well as in haplotype distribution. This newly recognized polymorphism at the HLA-Cw locus completes the availability of major histocompatibility complex typing in forensic science and practice.     

No exit and the organization of voice in biotechnology and pharmaceuticals

Although leadership is typically seen as coming from the leaders of governments and major institutions, a strong case can be made that concerned citizens first articulate important issues and policies that official leaders then pick up and promote. In a market-based society dominated by large corporations, Hirschman's framework of exit, voice, and loyalty can be used to relate consumer and grassroots movements to markets, when participants believe there is no exit and loyalty (or acquiescence) is not an option. While "voice" is usually applied to the individual or consumer level, this article develops the concept of organized voice and illustrates how it has exhibited leadership in the controversial relations between the biotech and pharmaceutical industries and society as a whole. The essay concludes by urging more research on organized voice as a source of leadership and by outlining some important dimensions for researchers to consider.     

DNA mixtures in forensic casework: a 4-year retrospective study

Occasionally interpretation guidelines from validation studies are difficult to apply to real forensic casework, especially in the case of mixed samples. Exogenous contamination, an unknown number of contributors or unbalanced proportion of each one in the sample and a varied degree of degradation of the biological materials, contribute to the difficulties in the interpretation of sample profiles. In this paper we have reviewed all the mixed genetic STR profiles encountered in our laboratory over 4 years (1997-2000) and evaluated the problems in the interpretation of the results. From 1547 criminal cases with 2424 samples typed, 163 showed a mixed profile (6.7%). We have observed that occasionally, a mixture appeared in the same sample with one multiplex amplification kit (e.g. Blue) and not with another (e.g. Green). From our results, it can be suggested that technical characteristics of the different fluorochrome groups in the multiplexes override the molecular characteristics of each STR in their capacity to detect mixtures.     

Allele frequencies for 13 STR's from two Colombian populations: Bogotá and Boyacá

We present information from populations living in Bogotá and Boyacá, for nine short tandem repeats (STR's) already studied and four new alleles not reported in previous Colombian populations.     

Age estimation by IBAS image analysis of teeth

The study of teeth to estimate age in a cadaver or in remains has become widely accepted in legal medicine, especially since the appearance of Gustafson's work in 1950. However, many studies published since that time have questioned the accuracy of these determinations. Computerized image analysis (IBAS) provides much more precise measurements of the parameters involved in these studies. An IBAS I (Kontron) image analysis system was used to study 19 different morphological parameters in midsagittal sections of a total of 173 upper and lower central incisors from as many live subjects. The data thus obtained provide useful information for determining the subject's age.     

Duplications of the Y-chromosome specific loci P25 and 92R7 and forensic implications

In the present study, we demonstrate that two commonly used Y-chromosome single nucleotide polymorphisms (SNPs), P25 and 92R7, are paralogous sequence variants (PSVs) originating from segmental duplications and that at least one of the sequence variants in each group of loci is polymorphic. Several methodologies were used in order to detect the SNP alleles and the PSVs of the loci. All results obtained with the various typing techniques supported the conclusion. The allele distributions of the binary markers were analysed in more than 600 males with seven different haplogroups. For P25, the ancestral allele C was found in several samples from different haplogroups. The derived allele A was always present with an additional C variant. Haplogroup P was defined by the derived allele A at the 92R7 locus. However, the ancestral allele G was always associated with an A variant due to the duplication.