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1.
Hum Biol ; 91(1): 9-20, 2019 02 17.
Artigo em Inglês | MEDLINE | ID: mdl-32073241

RESUMO

In northeast Argentina, different Amerindian communities share territory and history with settlers, mainly Europeans. Due to miscegenation, the current Argentinean population has a particular structure that can be described through X chromosome variation. The objectives of this study were to describe the variation of 10 X-chromosome short tandem repeats (X-STRs) in urban populations of the Argentinean regions known as Gran Chaco and Mesopotamia, report the forensic parameters of these STRs, and estimate the European and indigenous genetic components in these regions. Population and forensic parameters were estimated for 419 individuals from the analyzed populations, including two indigenous groups, Wichí and Mocoví, previously reported. Population structure was estimated through FST and RST distances and analysis of molecular variance. The indigenous American and European components were assessed with STRUCTURE. X-STRs showed a high level of genetic variability in urban and indigenous populations. Indigenous people of the Gran Chaco region showed significant differentiation from the urban samples (FST = 5.5%) and among themselves (FST = 5.3%). Genetic differentiation among urban groups was almost negligible, except that the population from Misión Nueva Pompeya differed from the rest of the city populations. Forensic parameters indicate that these X-STRs are useful as a complement to paternity tests. The set of 10 STRs could be a good tool for examining population differences.


Assuntos
Cromossomos Humanos X/genética , Variação Genética/genética , Genética Populacional , Indígenas Sul-Americanos/genética , Repetições de Microssatélites/genética , Argentina/epidemiologia , Genética Forense , Frequência do Gene , Estudo de Associação Genômica Ampla , Humanos , Masculino , População Urbana
2.
Ann Hum Biol ; 45(1): 72-76, 2018 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-29382285

RESUMO

BACKGROUND: Tandem repeats (STRs) are genomic markers of particular interest in forensic and population genetics. Most of the population data currently available correspond to the variation of STRs of forensic panels, which barely include dinucleotide tandem repeats. AIMS: The aim of the study is to test the usefulness of a battery of dinucleotide STRs on the X chromosome for population and forensic studies. SUBJECTS AND METHODS: A total of 672 individuals from 12 Mediterranean populations and two external references were analysed for 15 X-STR following the instructions of the commercial company and using control DNA from the CEPH centre whose sequences are published in GenBank. Genotypic results were analysed using standard population genetics methods including estimates of linkage disequilibrium, population structure and gene flow. Common forensic efficiency parameters were calculated. RESULTS: The analysed X-STRs show high values of genetic diversity, comparable to other STRs of more common use. No significant associations between markers were found. A slight population structure was detected between the two shores of the Mediterranean. The X-STRs studied here present a similar degree of variability to that of other X-STRs used in forensics. CONCLUSION: Tandem-repeated dinucleotides are a good tool for evidencing population differences here. Forensic parameters indicate that the dinucleotide X-STRs are suitable for forensic use.


Assuntos
Cromossomos Humanos X/genética , Repetições de Dinucleotídeos/genética , Frequência do Gene , Variação Genética , Migração Humana , África do Norte , Feminino , Genética Forense , Humanos , Masculino , Região do Mediterrâneo , Turquia
3.
Ann Hum Biol ; 45(6-8): 516-523, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30616396

RESUMO

BACKGROUND: Genetic variation in glucuronosyltransferases (UGT) is crucial in drug metabolism and risk of some diseases. AIM: To examine genetic variation in UGT in North African populations. SUBJECTS AND METHODS: Allele frequencies of SNPs UGT1A424Thr, UGT1A448Val, UGT2B1585Tyr, UGT2B15523Thr and UGT2B17 CNV deletion from Morocco, Algeria, Tunisia and Libya were compared to European and Sub-Saharan populations. RESULTS: North Africans are the group with the highest genetic heterogeneity given by internal differences in the occurrence of UGT2B17 deletion, UGT1A448Val and UGT1A4 haplotypes. UGT2B15 SNPs differentiate Sub-Saharans from the rest of the populations. CONCLUSION: North African populations show a high frequency of carriers of UGT2B15523Thr, a variant linked to an increased risk of prostate cancer. High Atlas Moroccans and Algerians show low frequency of UGT2B17del, a variant associated with high concentrations of testosterone and oestradiol.


Assuntos
Variação Genética , Glucuronosiltransferase/genética , Adulto , África Subsaariana , África do Norte , Animais , Gatos , Europa (Continente) , Feminino , Frequência do Gene , Haplótipos , Humanos , Masculino , Polimorfismo de Nucleotídeo Único , Adulto Jovem
4.
Clin Nutr ; 35(1): 34-40, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25701159

RESUMO

BACKGROUND & AIMS: To determine whether glutamine (Gln) supplementation would have a role modifying both the oxidative stress and the inflammatory response of critically ill children. METHODS: Prospective, randomized, double-blind, interventional clinical trial. Selection criteria were children requiring parenteral nutrition for at least 5 days diagnosed with severe sepsis or post major surgery. Patients were randomly assigned to standard parenteral nutrition (SPN, 49 subjects) or standard parenteral nutrition with glutamine supplementation (SPN + Gln, 49 subjects). RESULTS: Glutamine levels failed to show statistical differences between groups. At day 5, patients in the SPN + Gln group had significantly higher levels of HSP-70 (heat shock protein 70) as compared with the SPN group (68.6 vs 5.4, p = 0.014). In both groups, IL-6 (interleukine 6) levels showed a remarkable descent from baseline and day 2 (SPN: 42.24 vs 9.39, p < 0.001; SPN + Gln: 35.20 vs 13.80, p < 0.001) but only the treatment group showed a statistically significant decrease between day 2 and day 5 (13.80 vs 10.55, p = 0.013). Levels of IL-10 (interleukine 10) did not vary among visits except in the SPN between baseline and day 2 (9.55 vs 5.356, p < 0.001). At the end of the study, no significant differences between groups for PICU and hospital stay were observed. No adverse events were detected in any group. CONCLUSIONS: Glutamine supplementation in critically-ill children contributed to maintain high HSP-70 levels for longer. Glutamine supplementation had no influence on IL-10 and failed to show a significant reduction of IL-6 levels.


Assuntos
Estado Terminal/terapia , Glutamina/administração & dosagem , Proteínas de Choque Térmico HSP70/sangue , Interleucina-10/sangue , Interleucina-6/sangue , Nutrição Parenteral , Adolescente , Criança , Pré-Escolar , Carboidratos da Dieta/administração & dosagem , Gorduras na Dieta/administração & dosagem , Proteínas Alimentares/administração & dosagem , Suplementos Nutricionais , Método Duplo-Cego , Ingestão de Energia , Glutamina/sangue , Humanos , Lactente , Unidades de Terapia Intensiva Neonatal , Tempo de Internação , Período Pós-Operatório , Estudos Prospectivos , Sepse/diagnóstico , Sepse/tratamento farmacológico , Resultado do Tratamento
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