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Hormaza-Ange M.P.,Pontifical Bolivarian University | Ortiz-Trujillo I.C.,Biologa | Lopera-Valle J.S.,Estudiante de Medicina | Jaramillo-Gonzalez D.C.,Medico | And 2 more authors.
Revista Colombiana de Obstetricia y Ginecologia | Year: 2013

Objective: To estimate the association between genetic markers D19S884 and UCSNP-19 and Polycystic Ovary Syndrome (PCOS). Materials and methods: Study of 50 cases of PCOS consistent with the Rotterdam criteria and of 100 controls and two first-degree female relatives without the disease. Social, demographic and clinical characteristics were assessed, and genetic markers D19S884 and UCSNP-19 were identified using polymerase chain reaction. Quantitative variables are expressed as mean ± standard deviation; the Student t test and the McNemar test were used. Odds ratios and 95% confidence intervals were estimated. Results: Mean ages were 23 ± 6 years and 39 ± 18 years for the cases and controls, respectively. Cases showed a significant association with hirsutism OR = 3.6 (CI 95%: 1.3-12.8) and acne OR = 4.3 (CI 95%: 91.4-17.4). Del/ins and ins/ins polymorphisms of UCSNP-19 were found in the highest proportions in the two study groups, the former being more frequent among the cases and the latter among the controls. However, this difference was not statistically significant. Fourteen alleles of D19S884 were identified, ranging from 215 to 242 bp. Conclusions: No association was found between the CAPN10 gene UCSNP-19 polymorphism and the D19S994 marker with PCOS in the population studied. Source


Roewer L.,Charite - Medical University of Berlin | Nothnagel M.,University of Cologne | Nothnagel M.,University of Kiel | Gusmao L.,University of Porto | And 30 more authors.
PLoS Genetics | Year: 2013

Numerous studies of human populations in Europe and Asia have revealed a concordance between their extant genetic structure and the prevailing regional pattern of geography and language. For native South Americans, however, such evidence has been lacking so far. Therefore, we examined the relationship between Y-chromosomal genotype on the one hand, and male geographic origin and linguistic affiliation on the other, in the largest study of South American natives to date in terms of sampled individuals and populations. A total of 1,011 individuals, representing 50 tribal populations from 81 settlements, were genotyped for up to 17 short tandem repeat (STR) markers and 16 single nucleotide polymorphisms (Y-SNPs), the latter resolving phylogenetic lineages Q and C. Virtually no structure became apparent for the extant Y-chromosomal genetic variation of South American males that could sensibly be related to their inter-tribal geographic and linguistic relationships. This continent-wide decoupling is consistent with a rapid peopling of the continent followed by long periods of isolation in small groups. Furthermore, for the first time, we identified a distinct geographical cluster of Y-SNP lineages C-M217 (C3*) in South America. Such haplotypes are virtually absent from North and Central America, but occur at high frequency in Asia. Together with the locally confined Y-STR autocorrelation observed in our study as a whole, the available data therefore suggest a late introduction of C3* into South America no more than 6,000 years ago, perhaps via coastal or trans-Pacific routes. Extensive simulations revealed that the observed lack of haplogroup C3* among extant North and Central American natives is only compatible with low levels of migration between the ancestor populations of C3* carriers and non-carriers. In summary, our data highlight the fact that a pronounced correlation between genetic and geographic/cultural structure can only be expected under very specific conditions, most of which are likely not to have been met by the ancestors of native South Americans. © 2013 Roewer et al. Source


Gomez-Perez L.,University of the Basque Country | Alfonso-Sanchez M.A.,University of the Basque Country | Perez-Miranda A.M.,University of the Basque Country | Garcia-Obregon S.,University of the Basque Country | And 4 more authors.
Annals of Human Biology | Year: 2010

Aim: This work was intended to gain insights into the admixture processes occurring in Latin American populations by examining the genetic profiles of two ethnic groups from Antioquia (Colombia). Subjects and methods: To analyse the genetic variability, eight Alu insertions were typed in 64 Afro-Colombians and a reference group of 34 Hispanics (Mestizos). Admixture proportions were estimated using the Weighted Least Squares and the Gene Identity methods. The usefulness of the Alu elements as Ancestry Informative Markers (AIMs) was evaluated through differences in weighted allelic frequencies (δ values) and by hierarchical analysis of the molecular variance (AMOVA). Results: The Afro-Colombian gene pool was largely determined by the African component (88.5-88.8%), but the most prominent feature was the null contribution of European genes. Mestizos were characterized by a major European component (60.0-63.8%) and a comparatively low proportion of Amerindian (19.2-20.7%) and African (17.0-19.3%) genes. Five of the Alu loci examined (ACE, APO, FXIIIB, PV92 and TPA25) showed an adequate resolving power to differentiate between continental groups, as indicated by δ values and AMOVA results. Conclusions: The peculiarity of the Afro-Colombian gene pool seems to be associated with intense genetic drift episodes that occurred in isolated communities founded by small groups of runaway slaves. ACE, APO, FXIIIB, PV92 and TPA25 could be efficiently utilized in studies dealing with demographic history and biogeographical ancestry in human populations. © 2010 Informa UK Ltd. Source


Builes J.J.,GENES Ltda | Builes J.J.,University of Antioquia | Afanador C.H.,GENES Ltda | Afanador C.H.,University of Pamplona | And 8 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2013

This study established allele frequencies and some parameters of forensic interest with 15 autosomal STRs markers in a sample of 172 unrelated individuals from the Department of Cauca - Colombia using the PowerPlex® 16 BIO System (Promega CO) and Qiagen Multiplex PCR (Qiagen) kits. All markers analyzed showed more than 61% of heterozygosity. Penta E and Penta D were the only systems that are not in Hardy Weinberg equilibrium (p<0.0033) after Bonferroni correction. The probabilities of paternity (W), the power of exclusion (PE) and of discrimination (PD) accumulated for all loci analyzed were 0.9999, 0.9999 and >0.9999, respectively. The parameters of forensic interest have values suitable for routine use in forensic genetics. © 2013 Elsevier Ireland Ltd. Source


Builes J.J.,GENES Ltda | Builes J.J.,University of Antioquia | Castro J.F.,GENES Ltda | Castro J.F.,University of Antioquia | And 11 more authors.
Forensic Science International: Genetics Supplement Series | Year: 2013

Horse genotyping has a wide range of applications such as identification, pedigree verification, parentage test, forensic investigation, population genetics, analysis of diversity, legitimate registration, among others. Following the recommendations of the International Society for Forensic Genetics (ISFG) regarding the use of non-human (animal) DNA in forensic genetic investigations we have developed a multiplex PCR system of 15 autosomal tetra-nucleotide STRs loci to Equus caballus. The system includes the newly described ECAC2, ECAC4, ECAC5, ECAC9, ECAC10, ECAC12, ECAC14, ECAC15, ECAC18, ECAC21, ECAC23, ECAC26, ECAC28, ECAC29 and ECAC30 loci (on chromosomes 2, 4, 5, 9, 10, 12, 14, 15, 18, 21, 23, 26, 28, 29 and 30, respectively). The polymorphism is in average 8 alleles per marker with a maximum of eleven and a minimum of five for the population studied. All markers were in Hardy-Weinberg equilibrium, except ECAC5 (p= 0.0007). The probabilities of paternity (W), exclusion (PE) and cumulative discrimination (PD) for all loci were greater than 0.9999. This work will contribute to the implementation of standardized horse genotyping systems in the forensic community and the horse industry. © 2013 Elsevier Ireland Ltd. Source

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