[Science fiction and the Brave New World: predictions fulfilled in our century and bioethical considerations]. / Ficção científica e o Admirável mundo novo: previsões concretizadas no atual século e considerações bioéticas.

The speed with which science generates results in modern society requires reflection on the limits of scientific progress. This is the foundation of Brave New World, a book published by Aldous Huxley in 1932 that portrays a future technological society along the lines of Fordism. This article establishes a relationship between our current technocratic society and that described by Huxley, discussing the viability of the technical and biological aspects of the manipulations narrated in the book in light of current knowledge. Some bioethical considerations with respect to the procedures 'invented' by the author - and which are already or could be developed in modern society - will also be addressed.

Ficção científica e o Admirável mundo novo: previsões concretizadas no atual século e considerações bioéticas / Science fiction and the Brave New World: predictions fulfilled in our century and bioethical considerations

A celeridade com que a ciência gera resultados na sociedade moderna torna necessária uma reflexão sobre os limites da aplicação do progresso científico. Essa é a discussão de base de Admirável mundo novo, livro de Aldous Huxley publicado em 1932, que retrata uma futura sociedade tecnológica nos moldes do fordismo. Este artigo estabelece uma relação entre a sociedade tecnocrata atual e a sociedade descrita por Huxley, discutindo a viabilidade dos aspectos técnicos e biológicos das manipulações narradas à luz dos conhecimentos atuais. São também elaboradas algumas considerações bioéticas sobre os procedimentos 'inventados' pelo autor e que já são, ou poderiam ser, desenvolvidos na sociedade moderna.

The speed with which science generates results in modern society requires reflection on the limits of scientific progress. This is the foundation of Brave New World, a book published by Aldous Huxley in 1932 that portrays a future technological society along the lines of Fordism. This article establishes a relationship between our current technocratic society and that described by Huxley, discussing the viability of the technical and biological aspects of the manipulations narrated in the book in light of current knowledge. Some bioethical considerations with respect to the procedures 'invented' by the author - and which are already or could be developed in modern society - will also be addressed.

Genomic instability at the 13q31 locus and somatic mtDNA mutation in the D-loop site correlate with tumor aggressiveness in sporadic Brazilian breast cancer cases.

OBJECTIVE: Genomic instability is a hallmark of malignant tissues. In this work, we aimed to characterize nuclear and mitochondrial instabilities by determining short tandem repeats and somatic mitochondrial mutations, respectively, in a cohort of Brazilian sporadic breast cancer cases. Furthermore, we performed an association analysis of the molecular findings and the clinical pathological data. METHODS: We analyzed 64 matched pairs of breast cancer and adjacent non-cancerous breast samples by genotyping 13 nuclear short tandem repeat loci (namely, D2S123, TPOX, D3S1358, D3S1611, FGA, D7S820, TH01, D13S317, D13S790, D16S539, D17S796, intron 12 BRCA1 and intron 1 TP53) that were amplified with the fluorescent AmpFlSTR Identifiler Genotyping system (Applied Biosystems, USA) and by silver nitrate staining following 6% denaturing polyacrylamide gel electrophoresis. Somatic mtDNA mutations in the D-loop site were assessed with direct sequencing of the hypervariable HVI and HVII mitochondrial regions. RESULTS: Half of the cancer tissues presented some nuclear instability. Interestingly, the D13S790 locus was the most frequently affected (36%), while the D2S123 locus presented no alterations. Forty-two percent of the cases showed somatic mitochondrial mutations, the majority at region 303-315 poly-C. We identified associations between Elston grade III, instabilities at 13q31 region (p = 0.0264) and mtDNA mutations (p = 0.0041). Furthermore, instabilities at 13q31 region were also associated with TP53 mutations in the invasive ductal carcinoma cases (p= 0.0207). CONCLUSION: Instabilities at 13q31 region and the presence of somatic mtDNA mutations in a D-loop site correlated with tumor aggressiveness.

DNA typing from vaginal smear slides in suspected rape cases.

In an investigation of suspected rape, proof of sexual assault with penetration is required. In view of this, detailed descriptions of the genitalia, the thighs and pubic region are made within the forensic medical service. In addition, vaginal swabs are taken from the rape victim and some of the biological material collected is then transferred to glass slides. In this report, we describe two rape cases solved using DNA typing from cells recovered from vaginal smear slides. In 1999, two young women informed the Rio de Janeiro Police Department that they had been victims of sexual assaults. A suspect was arrested and the victims identified him as the offender. The suspect maintained that he was innocent. In order to elucidate these crimes, vaginal smear slides were sent to the DNA Diagnostic Laboratory for DNA analysis three months after the crimes, as unique forensic evidence. To get enough epithelial and sperm cells to perform DNA analysis, we used protocols modified from the previously standard protocols used for DNA extraction from biological material fixed on glass slides. The quantity of cells was sufficient to perform human DNA typing using nine short tandem repeat (STR) loci. It was 3.3 billion times more probable that it was the examined suspect who had left sperm cells in the victims, rather than any other individual in the population of Rio de Janeiro.

DNA typing from vaginal smear slides in suspected rape cases

Na suspeita de casos de estupro, é necessária a realização de exames para constatar a prática do abuso sexual com penetração. Com esse objetivo, nos serviços de medicina legal, é realizada, entre outros exames, a feitura de esfregaços vaginais com a transferência do material biológico para lâmina. Neste trabalho, são descritos dois casos forenses, elucidados pela tipagem de DNA realizada a partir de células de esfregaço vaginal. Em 1999, duas jovens relataram ao Departamento de Polícia do Rio de Janeiro que haviam sido vítimas de abuso sexual. Um suspeito foi detido e apontado pelas vítimas como o agressor. Apesar das acusações, o suspeito alegou sua inocência. Com objetivo de elucidar os fatos, lâminas de esfregaço vaginal representando as únicas evidências biológicas dos suspeitosos casos de estupro foram enviadas ao Laboratório de Diagnósticos por DNA três meses após o crime. Os protocolos utilizados para recuperação celular e extração de DNA baseiam-se em técnicas preexistentes, porém adaptadas para se obter quantidade de DNA suficiente para realização das análises. A quantidade de células foi suficiente para a utilização da técnica de extração diferencial de DNA e sua tipagem por meio de 9 loci "short tandem repeats" (STR). A análise estatística mostrou ser 3,3 bilhões de vezes mais provável que o relatado suspeito seja o doador das células espermáticas encontradas no material biológico coletado das vítimas que qualquer outro indivíduo na população do Rio de Janeiro.

Allele frequencies data and statistic parameters for 16 STR loci-D19S433, D2S1338, CSF1PO, D16S539, D7S820, D21S11, D18S51, D13S317, D5S818, FGA, Penta E, TH01, vWA, D8S1179, TPOX, D3S1358-in the Rio de Janeiro population, Brazil.

Allele frequencies for 16 short tandem repeats (STR) loci were determined with a sample of 230-300 unrelated individuals from the population of Rio de Janeiro, Brazil. The loci are the most commonly used in forensic and paternity testing, being analysed by the Identifiler (Applied Biosystems) and PowerPlex 2.1 (Promega) commercial kits. It was proved that Penta E and D18S51 are the most polymorphic loci.

Identification of a criminal by DNA typing in a rape case in Rio de Janeiro, Brazil.

CONTEXT: Human DNA identification is a powerful tool for paternity cases as well as for criminal investigation, in which biological evidence is typed after collection from crime scenes and for the identification of human remains. OBJECTIVE: Identification of a criminal in a rape case with 4 suspects using STR and VNTR DNA analysis. TYPE OF STUDY: Forensic DNA analysis. SETTING: DNA Diagnostic Laboratory, Universidade Estadual do Rio de Janeiro, Brazil. PARTICIPANTS: Blood from 4 suspects and the victim, and skin from the fetus. PROCEDURES: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: Three of the suspects were excluded and one of them was identified as the biological father of the fetus after typing with CTT and FFv Multiplexes. Complementary DNA typing at 3 VNTR loci was also carried out. CONCLUSIONS: After typing four suspects using 6 STR loci, one of them was identified as the biological father of the fetus. In order to significantly enhance the Combined Paternity Index (PI), complementary DNA typing in 3 VNTR loci was carried out. The included suspect was found to be the biological father with a PI of 412,860 (Probability of Paternity: 99.9997%).

Identification of a criminal by DNA typing in a rape case in Rio de Janeiro, Brazil

CONTEXT: Human DNA identification is a powerful tool for paternity cases as well as for criminal investigation, in which biological evidence is typed after collection from crime scenes and for the identification of human remains. OBJECTIVE: Identification of a criminal in a rape case with 4 suspects using STR and VNTR DNA analysis. TYPE OF STUDY: Forensic DNA analysis. SETTING: DNA Diagnostic Laboratory, Universidade Estadual do Rio de Janeiro, Brazil. PARTICIPANTS: Blood from 4 suspects and the victim, and skin from the fetus. PROCEDURES: Polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: Three of the suspects were excluded and one of them was identified as the biological father of the fetus after typing with CTT and FFv Multiplexes. Complementary DNA typing at 3 VNTR loci was also carried out. CONCLUSIONS: After typing four suspects using 6 STR loci, one of them was identified as the biological father of the fetus. In order to significantly enhance the Combined Paternity Index (PI), complementary DNA typing in 3 VNTR loci was carried out. The included suspect was found to be the biological father with a PI of 412,860 (Probability of Paternity: 99.9997 percent)