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1.
Ann Hum Genet ; 86(6): 297-327, 2022 11.
Artículo en Inglés | MEDLINE | ID: mdl-35946314

RESUMEN

Eye color prediction based on an individual's genetic information is of interest in the field of forensic genetics. In recent years, researchers have studied different genes and markers associated with this externally visible characteristic and have developed methods for its prediction. The IrisPlex represents a validated tool for homogeneous populations, though its applicability in populations of mixed ancestry is limited, mainly regarding the prediction of intermediate eye colors. With the aim of validating the applicability of this system in an admixed population from Argentina (n = 302), we analyzed the six single nucleotide variants used in that multiplex for eye color and four additional SNPs, and evaluated its prediction ability. We also performed a genotype-phenotype association analysis. This system proved to be useful when dealing with the extreme ends of the eye color spectrum (blue and brown) but presented difficulties in determining the intermediate phenotypes (green), which were found in a large proportion of our population. We concluded that these genetic tools should be used with caution in admixed populations and that more studies are required in order to improve the prediction of intermediate phenotypes.


Asunto(s)
ADN , Color del Ojo , Humanos , Color del Ojo/genética , Argentina , Genotipo , Fenotipo , Polimorfismo de Nucleótido Simple , Nucleótidos , Genética de Población
2.
Rev. Fac. Med. (Bogotá) ; 67(3): 193-200, jul.-set. 2019. tab
Artículo en Inglés | LILACS | ID: biblio-1041143

RESUMEN

Abstract Introduction: Different developmental and environmental vulnerability conditions can influence violent behavior in young people. Objectives: To describe the characteristics of young males who were convicted of murder or attempted murder in the province of Buenos Aires, based on indicators of maturity, impulsivity, and socio-family vulnerability. Materials and Methods: Descriptive and exploratory study. The sample consisted of 195 young men (mean: 16.8 years) imprisoned in reformatory institutions of the Province of Buenos Aires, Argentina, as they were convicted of murder (n=130), repeated murder (n=15), or attempted murder (n=50). Self and hetero-informed instruments, and professional assessment scales were used, namely: the Consideration of Future Consequences Scale (CFC); the Psychosocial Maturity Inventory (PSM); the Weinberg Adjustment Inventory (WAI); the Resistance to Peer Influence Questionnaire (RPIQ); the Psychopathy Checklist: Youth Version (PCL:YV); the Inventory of Callous Unemotional Traits (ICU), and the Barrat Impulsiveness Scale version 11 (BIS-11). Results: The distribution of the total BIS 11 and the PSM Individual Adaptation were normal (mean: 62.33 and 6.38, respectively). The mean of the total PCL:YV was 25.87. In 32.8% of the cases a first degree relative was also imprisoned. "Impulsive" and "Non-impulsive" clusters were empirically established. Conclusions: The participants' profile is characterized by several psychological and socio-family vulnerabilities that should be targeted in preventive interventions aimed at preventing violent recidivism.


Resumen Introducción. Diversas condiciones de vulnerabilidad dependientes del desarrollo y de las influencias medioambientales pueden influir en las conductas violentas juveniles. Objetivos. Describir las características de jóvenes que cometieron homicidio o intento de homicidio atendiendo a indicadores de madurez, impulsividad y vulnerabilidad sociofamiliar. Materiales y métodos. Estudio de diseño descriptivo y exploratorio. Los participantes fueron 195 varones jóvenes (media: 16.8 años) institucionalizados en la provincia de Buenos Aires, Argentina, por orden judicial por haber cometido homicidio (n=130), homicidio reiterado (n=15) o tentativa de homicidio (n=50). Se utilizaron instrumentos auto y heteroinformados y las escalas de evaluación profesional Consideration of Future Consequences Scale (CFC), Psychosocial Maturity Inventory (PSM), Weinberg Adjustment Inventory (WAI), Resistance to Peer Influence (RPI), Psychopathy Checklist: Youth Version (PCL:YV), Inventory of Callous Unemotional Traits (ICU) y Barrat Impulsiveness Scale version 11 (BIS 11). Resultados. La distribución de BIS 11 total y de PSM Adecuación Individual fueron normales, con medias de 62.33 y 6.38, respectivamente; la media de PCL: YV total fue 25.87. El 32.8% de los jóvenes tenía familiares de primer grado presos. Se configuraron empíricamente los clusters "impulsivo" y "no impulsivo". Conclusiones. El perfil de los participantes se caracteriza por diversas vulnerabilidades psicológicas y sociofamiliares que deberían ser blanco de intervención preventiva de recidiva violenta.

3.
Int J Offender Ther Comp Criminol ; 63(10): 1952-1966, 2019 08.
Artículo en Inglés | MEDLINE | ID: mdl-30913938

RESUMEN

Although knowledge on and prevention of juvenile homicide are crucial for social welfare and have been approached through different methodological instruments, this behavior is still quite difficult to be addressed. In this study, we have analyzed several psychological and social factors that could be theoretically related to juvenile homicidal behavior. Our case-control study included young (M = 16.8 years) males institutionalized in the Province of Buenos Aires, Argentina, under judicial order for crime. Out of 195 cases, 130 had committed homicide, 15 had repeated homicide, and 50 had attempted homicide. The control group comprised 305 young males who had committed other types of crimes. Self-reported and informant-reported instruments and professional assessment were used: Consideration of Future Consequences (CFC) Scale, Weinberger Adjustment Inventory (WAI), Resistance to Peer Influence (RPI), Psychopathy Checklist-Youth Version (PCL-YV), and Inventory of Callous Unemotional Traits (ICU). Differences between indicators of the psychological and social dimensions were not statistically significant. Only Factor 4 of the PCL-YV showed statistically significant difference. However, the relevance of this result is under discussion.


Asunto(s)
Homicidio/psicología , Escalas de Valoración Psiquiátrica , Adolescente , Argentina , Estudios de Casos y Controles , Humanos , Masculino
4.
J Oral Facial Pain Headache ; 32(4): 367-374, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-30365572

RESUMEN

AIMS: To analyze in a population from Argentina the variation of three genes involved in the control of pain pathways-two genes that code for opioid receptors (OPRM1 and OPRK1) and COMT, which codes for an important enzyme in the control of neurotransmission-and to evaluate the associations of these genes with oral pain and the need for analgesics in the population under study. METHODS: A total of 134 volunteer donors from the city of Resistencia and 27 donors from the Wichí community for comparison were analyzed for 13 single nucelotide polymorphisms (SNPs) and 1 insertion/deletion (Indel) localized in the three genes using polymerase chain reaction-restriction fragment length polymorphism or standard PCR and electrophoresis. All 134 individuals from Resistencia provided biologic samples for DNA analysis, and a subset (n = 81) agreed to answer a questionnaire for an association analysis. Statistical tests for a possible association between genetic variation and self-reported ethnic origin, oral pain, and need for analgesic drugs were performed. RESULTS: Significant differences were found when the study population was compared to populations from other continents, as well as between the two studied populations (P < .05). A positive association was suggested for the COMT gene from Resistencia with both oral pain intensity and analgesic requirements. CONCLUSION: The admixture process that occurred in the past of Resistencia probably contributed to a genetic differentiation in this population, and this genetic variation might influence phenotypic expressions of pain perception and analgesic requirements.


Asunto(s)
Catecol O-Metiltransferasa/genética , Enfermedades de la Boca/genética , Dolor/genética , Receptores Opioides kappa/genética , Receptores Opioides mu/genética , Analgésicos/uso terapéutico , Argentina , Humanos , Enfermedades de la Boca/tratamiento farmacológico , Dolor/tratamiento farmacológico , Percepción del Dolor , Polimorfismo de Nucleótido Simple
5.
Genet Mol Biol ; 41(1): 50-58, 2018.
Artículo en Inglés | MEDLINE | ID: mdl-29658972

RESUMEN

The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those of other populations of the world for these polymorphisms (p < 0,01). The differences we found might respond to the admixed ethnic composition of Argentina; therefore, methods of analysis used in European populations should be carefully applied when studying the population of Argentina. These findings reaffirm the importance of this investigation in the Argentinian population for people identification based on iris color.

6.
Genet. mol. biol ; 41(1): 50-58, Jan.-Mar. 2018. tab, graf
Artículo en Inglés | LILACS | ID: biblio-892466

RESUMEN

Abstract The aim of this work was to describe the phenotypic and genotypic variability related to iris color for the population of Buenos Aires province (Argentina), and to assess the usefulness of current methods of analysis for this country. We studied five Single Nucleotide Polymorphisms (SNPs) included in the IrisPlex kit, in 118 individuals, and we quantified eye color with Digital Iris Analysis Tool. The markers fit Hardy-Weinberg equilibrium for the whole sample, but not for rs12913832 within the group of brown eyes (LR=8.429; p=0.004). We found a remarkable association of HERC2 rs12913832 GG with blue color (p < 0.01) but the other markers did not show any association with iris color. The results for the Buenos Aires population differ from those of other populations of the world for these polymorphisms (p < 0,01). The differences we found might respond to the admixed ethnic composition of Argentina; therefore, methods of analysis used in European populations should be carefully applied when studying the population of Argentina. These findings reaffirm the importance of this investigation in the Argentinian population for people identification based on iris color.

7.
Genet Mol Biol ; 38(2): 152-5, 2015 May.
Artículo en Inglés | MEDLINE | ID: mdl-26273217

RESUMEN

Several single nucleotide polymorphisms (SNPs) in the Mu Opioid Receptor gene (OPRM1) have been identified and associated with a wide variety of clinical phenotypes related both to pain sensitivity and analgesic requirements. The A118G and other potentially functional OPRM1 SNPs show significant differences in their allele distributions among populations. However, they have not been properly addressed in a population genetic analysis. Population stratification could lead to erroneous conclusions when they are not taken into account in association studies. The aim of our study was to analyze OPRM1 SNP variability by comparing population samples of the International Hap Map database and to analyze a new population sample from the city of Corrientes, Argentina. The results confirm that OPRM1 SNP variability differs among human populations and displays a clear ancestry genetic structure, with three population clusters: Africa, Asia, and Europe-America.

8.
Hum Biol ; 85(5): 687-98, 2013 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-25078955

RESUMEN

The Wichí people from Chaco Province inhabit the region called Impenetrable Chaqueño, where the climatic conditions are extreme. Besides scarce communication with the main urban centers, the cultural patterns of the Wichí cause these communities to live in certain degree of isolation. The effect of this situation is an increased genetic differentiation from other populations, as it was observed through autosomal and Y chromosome markers. However, the genetic variation of X chromosome has not yet been fully analyzed. The patterns of allele distribution of different markers of X chromosome can be highly informative in comparative studies, because its special features make this chromosome a potential source to uncover ethnic differences. The aim of this study was to assess the variation of X chromosome present in the Wichí population living around Misión Nueva Pompeya, in Chaco Province, and to identify particular variation of X-repetitive markers (short tandem repeats, X-STRs) in Chaco Amerindians. We genotyped Wichí for 10 noncoding X-STRs and compared them with a Mocoví population and with published data on individuals coming from European immigration. We found high homozygote proportion and linkage disequilibrium values for the X chromosome in the Wichí population. The data showed the Wichí to be more distant from nonnative people than was the Mocoví population analyzed for comparison. We also found certain differences with Mocoví, possibly due to a higher genetic flow of the latter with nonnatives. A process of genetic drift seems to be enhanced by the social behavior of the Wichí, since they live apart from other native and nonnative groups. The geographic isolation and the extreme environmental conditions can also be considered as major factors contributing to the population differentiation. Although we found no new allele or undescribed variation, the whole pattern of variation for these markers gives the Wichí a particular population identity.


Asunto(s)
Cromosomas Humanos X/genética , Variación Genética/genética , Indígenas Sudamericanos/genética , Repeticiones de Microsatélite/genética , Argentina/epidemiología , Femenino , Frecuencia de los Genes/genética , Marcadores Genéticos/genética , Genotipo , Geografía , Humanos , Desequilibrio de Ligamiento/genética , Masculino , Población Blanca/genética
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