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1.
Cell ; 186(25): 5472-5485.e9, 2023 12 07.
Artículo en Inglés | MEDLINE | ID: mdl-38065079

RESUMEN

The rise and fall of the Roman Empire was a socio-political process with enormous ramifications for human history. The Middle Danube was a crucial frontier and a crossroads for population and cultural movement. Here, we present genome-wide data from 136 Balkan individuals dated to the 1st millennium CE. Despite extensive militarization and cultural influence, we find little ancestry contribution from peoples of Italic descent. However, we trace a large-scale influx of people of Anatolian ancestry during the Imperial period. Between ∼250 and 550 CE, we detect migrants with ancestry from Central/Northern Europe and the Steppe, confirming that "barbarian" migrations were propelled by ethnically diverse confederations. Following the end of Roman control, we detect the large-scale arrival of individuals who were genetically similar to modern Eastern European Slavic-speaking populations, who contributed 30%-60% of the ancestry of Balkan people, representing one of the largest permanent demographic changes anywhere in Europe during the Migration Period.


Asunto(s)
Migración Humana , Población Blanca , Humanos , Peninsula Balcánica , Europa (Continente) , Población Blanca/genética
2.
Ann Hum Biol ; 49(7-8): 342-347, 2022 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-36255378

RESUMEN

BACKGROUND: Tunisia has a complex demographic history of migrations from within Africa, Europe, and the Middle East. However, only one population study based on X-STR markers has been reported so far. AIM: To investigate the genetic polymorphisms of 17 X-STRs in two Tunisian populations from the cities of Sousse and Makthar, and to reveal the genetic relationships with other reference populations. SUBJECTS AND METHODS: A total of 194 unrelated healthy individuals were analysed for 17 X-STR markers. RESULTS: Our results indicate that DXS6809 is the most polymorphic locus, whereas DXS6807 is the least informative marker in the populations of Sousse and Makthar. In addition, forensic statistical parameters, such as the power of discrimination in males and females, as well as the mean of exclusion in duos and trios, reveal that the panel of 17 X-STRs is highly informative and useful in different forensic applications. Overall, pairwise genetic distances (Fst) and non-metric MDS plots demonstrate clustering of different populations according to their geographic locations and their historical relationships. CONCLUSION: Overall, the study of X-STR markers of the Tunisian populations can help to promote the establishment of a forensic DNA reference database in Tunisia and provide reference for future anthropological research.


Asunto(s)
Repeticiones de Microsatélite , Polimorfismo Genético , Femenino , Humanos , Masculino , Etnicidad/genética , Frecuencia de los Genes , Genética de Población , Repeticiones de Microsatélite/genética , Túnez , Sitios Genéticos
3.
Int J Legal Med ; 135(5): 1773-1776, 2021 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-33742257

RESUMEN

In the present work, an extensive analysis of the X-chromosomal pool of Native American and Mestizo groups of Central America (Guatemala, El Salvador, Nicaragua, and Panama) has been carried out. Allele and haplotype frequency databases, as well as other forensic parameters for these populations, are presented. The admixture analysis supports the tri-hybrid composition in terms of ancestry in the Mestizo populations, with a predominant Native American contribution (54-69%), followed by European (19-28%) and African contributions (12-19%). Pairwise FST genetic distances highlight the genetic proximity between the northernmost Central American populations, especially among admixed populations. The unique and complex nature of this area, where populations from different origins intercrossed, as well as the informativity of X-STR data, highpoint the great interest of this genetic study. Furthermore, the X-chromosome databases for Central American populations here provided will be not only useful for forensic and population purposes not only in the target countries but also in the host countries.


Asunto(s)
Cromosomas Humanos Y , Etnicidad/genética , Pueblos Indígenas/genética , Repeticiones de Microsatélite , América Central/etnología , Femenino , Variación Genética , Humanos , Masculino
4.
Int J Legal Med ; 134(3): 929-936, 2020 May.
Artículo en Inglés | MEDLINE | ID: mdl-32030455

RESUMEN

Mitochondrial DNA (mtDNA) is a useful tool in forensic investigation as it provides information about the matrilineal ancestry of individuals. In addition, mtDNA can be analyzed when the analysis of other nuclear markers is underperforming. Recently, we developed a minisequencing panel for the simultaneous analysis of 52 mtDNA SNPs to classify maternal lineages into the main haplogroups and their phylogeographic origin. In order to make this panel suitable for forensic genetics laboratories, a validation study has been performed in accordance with the Scientific Working Group on DNA Analysis Methods (SWGDAM) guidelines, including species specificity, reproducibility, sensitivity, and stability tests. The results demonstrate that the panel of 52 mtDNA SNPs is highly sensitive, since it enables to obtain complete genetic profiles of samples containing minimal amounts of DNA (1 pg). Furthermore, it provides sufficient genetic information to detect the matrilineal biogeographical origin of highly degraded samples, i.e., ancient dating skeletal remains, and samples with the presence of inhibitors, such as hematin and humic acid. In addition, this panel can detect mixtures in samples whose mtDNA haplogroups of contributors are different. Overall, the results of this study demonstrate the suitability of this minisequencing panel of 52 mtDNA SNPs to be used in forensic cases, with samples of low amount or degraded DNA.


Asunto(s)
ADN Mitocondrial/análisis , Haplotipos , Linaje , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN/métodos , ADN Mitocondrial/normas , Genética Forense/métodos , Humanos , Herencia Materna , Filogeografía , Reproducibilidad de los Resultados , Sensibilidad y Especificidad , Especificidad de la Especie
5.
Int J Legal Med ; 133(1): 85-88, 2019 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29569161

RESUMEN

In the present study, the genetic variations of 17 X-STR markers (DXS8378, DXS9898, DXS7133, GATA31E08, GATA172D05, DXS6801, DXS7423, DXS6809, DXS6799, DXS7132, DXS9902, DXS6800, DXS6789, DXS10075, DXS10079, DXS6807, and DXS6803) were analyzed in 139 unrelated individuals in Nabeul, aiming to perform an X-STR database for anthropological and forensic purposes. Our results indicate that DXS6809 was the most polymorphic locus, whereas DXS6807 was the least informative marker. In addition, the obtained values for the statistical parameters of forensic interest, i.e., the power of discrimination in males (PDM) and females (PDF), as well as the mean exclusion chance in duos (MECD) and trios (MECT) have demonstrated that this panel of 17 X-STRs is highly informative and useful for forensic application and anthropological research. Additionally, pairwise genetic distances based on FST were calculated between Nabeul population and other populations extracted from the literature. Genetic distances were represented in a non-metric MDS plot and clustering of populations according to their geographic locations and their historical relationship was detected.


Asunto(s)
Cromosomas Humanos X , Variación Genética , Genética de Población , Repeticiones de Microsatélite , Dermatoglifia del ADN , Femenino , Frecuencia de los Genes , Marcadores Genéticos , Genotipo , Haplotipos , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Túnez
6.
Electrophoresis ; 38(7): 1016-1021, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-27987217

RESUMEN

A Y-STR multiplex system has been developed with the purpose of complementing the widely used 17 Y-STR haplotyping (AmpFlSTR Y Filer® PCR Amplification kit) routinely employed in forensic and population genetic studies. This new multiplex system includes six additional STR loci (DYS576, DYS481, DYS549, DYS533, DYS570, and DYS643) to reach the 23 Y-STR of the PowerPlex® Y23 System. In addition, this kit includes the DYS456 and DYS385 loci for traceability purposes. Male samples from 625 individuals from ten worldwide populations were genotyped, including three sample sets from populations previously published with the 17 Y-STR system to expand their current data. Validation studies demonstrated good performance of the panel set in terms of concordance, sensitivity, and stability in the presence of inhibitors and artificially degraded DNA. The results obtained for haplotype diversity and discrimination capacity with this multiplex system were considerably high, providing further evidences of the suitability of this novel Y-STR system for forensic purposes. Thus, the use of this multiplex for samples previously genotyped with 17 Y-STRs will be an efficient and low-cost alternative to complete the set of 23 Y-STRs and improve allele databases for population and forensic purposes.


Asunto(s)
Cromosomas Humanos Y/genética , Genética Forense/métodos , Repeticiones de Microsatélite/genética , Reacción en Cadena de la Polimerasa/métodos , Genética de Población , Humanos , Masculino , Grupos Raciales/genética
7.
Electrophoresis ; 37(12): 1651-8, 2016 07.
Artículo en Inglés | MEDLINE | ID: mdl-27060859

RESUMEN

Currently, two of the most widely used X-chromosome STR (X-STR) multiplexes are composed by ten (GHEP-ISFG decaplex) and 12 markers (Investigator Argus X-12 Kit). The number of markers included is a drawback for complex relative testing cases, likewise the large size of some amplicons difficult their application to degraded samples. Here, we present a new multiplex of 17 X-STRs with the aim of increasing both the resolution power and forensic applicability. This newly proposed set includes the X-STRs of the GHEP-ISFG decaplex, four X-STRs from the Investigator Argus X-12 Kit, three of them also included in the decaplex, and six additional more. In order to ensure the allele designation, an allelic ladder was developed. The validation of the present multiplex was carried out according to the revised guidelines by the SWGDAM (Scientific Working Group on DNA Analysis Methods). A total of 488 unrelated individuals from four different continents were analyzed. The forensic efficiency evaluation showed high values of combined power of discrimination in males (≥0.999999996) and females (≥0.999999999999995) as well as combined paternity exclusion probabilities in trios (≥0.99999998) and duos (≥0.999996). The results presented herein have demonstrated that the new 17 X-STR set constitutes a high-resolution alternative to the current X-STR multiplexes.


Asunto(s)
Cromosomas Humanos X , Genética Forense/métodos , Reacción en Cadena de la Polimerasa Multiplex/métodos , Dermatoglifia del ADN/métodos , Femenino , Genética Forense/normas , Genética de Población , Humanos , Masculino , Repeticiones de Microsatélite , Paternidad
8.
PLoS Genet ; 9(4): e1003460, 2013 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-23593040

RESUMEN

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.


Asunto(s)
Cromosomas Humanos Y/genética , Haplotipos/genética , Indígenas Sudamericanos/genética , Repeticiones de Microsatélite/genética , América Central , Europa (Continente) , Genotipo , Geografía , Humanos , Lenguaje , Lingüística , Masculino , Filogenia , Polimorfismo de Nucleótido Simple , Grupos de Población/genética , América del Sur
9.
Forensic Sci Int Genet ; 69: 102999, 2024 03.
Artículo en Inglés | MEDLINE | ID: mdl-38181588

RESUMEN

The Spanish and Portuguese Speaking Working Group of the International Society for Forensic Genetics (GHEP-ISFG) organized a collaborative study on mutations of Y-chromosomal short tandem repeats (Y-STRs). New data from 2225 father-son duos and data from 44 previously published reports, corresponding to 25,729 duos, were collected and analyzed. Marker-specific mutation rates were estimated for 33 Y-STRs. Although highly dependent on the analyzed marker, mutations compatible with the gain or loss of a single repeat were 23.2 times more likely than those involving a greater number of repeats. Longer alleles (relatively to the modal one) showed to be nearly twice more mutable than the shorter ones. Within the subset of longer alleles, the loss of repeats showed to be nearly twice more likely than the gain. Conversely, shorter alleles showed a symmetrical trend, with repeat gains being twofold more frequent than reductions. A positive correlation between the paternal age and the mutation rate was observed, strengthening previous findings. The results of a machine learning approach, via logistic regression analyses, allowed the establishment of algebraic formulas for estimating the probability of mutation depending on paternal age and allele length for DYS389I, DYS393 and DYS627. Algebraic formulas could also be established considering only the allele length as predictor for DYS19, DYS389I, DYS389II-I, DYS390, DYS391, DYS393, DYS437, DYS439, DYS449, DYS456, DYS458, DYS460, DYS481, DYS518, DYS533, DYS576, DYS626 and DYS627 loci. For the remaining Y-STRs, a lack of statistical significance was observed, probably as a consequence of the small effective size of the subsets available, a common difficulty in the modeling of rare events as is the case of mutations. The amount of data used in the different analyses varied widely, depending on how the data were reported in the publications analyzed. This shows a regrettable waste of produced data, due to inadequate communication of the results, supporting an urgent need of publication guidelines for mutation studies.


Asunto(s)
Cromosomas Humanos Y , Dermatoglifia del ADN , Humanos , Repeticiones de Microsatélite , Etnicidad/genética , Mutación , Haplotipos , Genética de Población
10.
Int J Legal Med ; 126(2): 299-302, 2012 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-22189782

RESUMEN

This study presents mitochondrial DNA (mtDNA) data from 107 unrelated individuals from two of the major ethnic groups in Ecuador: Amerindian Kichwas (n = 65) and Mestizos (n = 42). We characterized the diversity of the matrilineal lineages of these Ecuadorian groups by analyzing the entire mtDNA control region. Different patterns of diversity were observed in the two groups as result of the unique historical and demographic events which have occurred in each population. Higher genetic diversity values were obtained for the Mestizo group than for the Amerindian group. Interestingly, only Native American lineages were detected in the two population samples, but with differences in the haplogroup distribution: Kichwa (A, 49%; B, 3%; C, 8%; and D, 40%) and Mestizo (A, 33%; B, 33%; C, 10%; and D, 24%). Analysis of the complete mtDNA control region proved to be useful to increase the discrimination power between individuals who showed common haplotypes in HVSI and HVSII segments; and added valuable information to the phylogenetic interpretation of mtDNA haplotypes.


Asunto(s)
ADN Mitocondrial/genética , Variación Genética/genética , Indígenas Sudamericanos/genética , Manchas de Sangre , Ecuador , Genética Forense , Haplotipos , Humanos
11.
Am J Forensic Med Pathol ; 33(3): 211-4, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-21063198

RESUMEN

Because of the adverse effects that diagenesis exert on ancient skeletal remains, DNA from these samples is often compromised to the point where genetic typing can be challenging. Nevertheless, robust and reliable methods are currently available to allow successful genotyping of ancient specimens. Here we report nuclear DNA-based methods and typing strategies used to analyze 2 human skeletons from a medieval burial. Reliable DNA nuclear profiles were obtained from teeth, whereas mitochondrial DNA analyses in bones were inconclusive. A complete nuclear mini short tandem repeat profile was obtained from a well-preserved premolar, but only a partial one from the femur. Increasing the sensitivity of the polymerase chain reaction system allowed a full profile from the latter, but the presence of artifacts reinforced the idea that the interpretation of this kind of analysis must be performed with caution. The results presented here also indicate that DNA from dental pieces can be better preserved than from bones, even in the case of well-preserved long bones with thick cortical tissue such as the femurs, and have a better chance of successful genetic typing, probably because of the high degree of protection conferred to the DNA by the enamel.


Asunto(s)
Diente Premolar/química , Dermatoglifia del ADN/métodos , ADN Mitocondrial/genética , Repeticiones de Microsatélite , Degradación Necrótica del ADN , Electroforesis Capilar , Femenino , Fémur/química , Historia Medieval , Humanos , Reacción en Cadena en Tiempo Real de la Polimerasa , Análisis de Secuencia de ADN
12.
Sci Rep ; 12(1): 21734, 2022 12 16.
Artículo en Inglés | MEDLINE | ID: mdl-36526709

RESUMEN

Y chromosomal short tandem repeats (Y-STRs) are used in forensic investigations as a useful complementary tool to autosomal markers. The ongoing development of new kits with an increasing number of markers makes it necessary to update populations typed in the Y-STR Haplotype Reference Database to reach at least 23 Y-STRs. A novel Y-STR multiplex panel was developed to offer a cost-efficient alternative to update Y-STR haplotypes from 12 to 23 loci. This panel includes the eleven markers, DYS448, DYS456, DYS458, DYS635, Y-GATA H4, DYS576, DYS481, DYS549, DYS533, DYS570 and DYS643, as well as DYS385a/b for traceability purpose. Developmental validation of this panel was conducted following the recommendations of the Scientific Working Group on DNA Analysis Methods (SWGDAM), showing high sensitivity, tolerance to common inhibitors as well as high species specificity. It was efficient for degraded DNA samples and for detection of male mixtures. When applying it for extending the current data of the Ibiza population, both the discrimination capacity and the haplotype diversity increased from 0.5952 to 0.9048 and from 0.9808 to 0.9977, respectively. Together, the study demonstrates the suitability of this panel in forensic casework.


Asunto(s)
Cromosomas Humanos Y , Repeticiones de Microsatélite , Humanos , Masculino , Cromosomas Humanos Y/genética , Repeticiones de Microsatélite/genética , Dermatoglifia del ADN , Genética Forense , Haplotipos/genética , ADN , Genética de Población
13.
Gene ; 823: 146357, 2022 May 20.
Artículo en Inglés | MEDLINE | ID: mdl-35189246

RESUMEN

This study examines Y-chromosome and mtDNA markers in the population of the island of Kiritimati in the context of geographically targeted reference populations from the Pacific. Kiritimati derives its population from the atoll islands of the Gilbert Archipelago and representsa geographicaltransitional region between Micronesia, Polynesia and Melanesia that likely played a critical role during theAustronesian expansion. The large presence(84.1%)of individuals withO-M175, O2a-M324 and O2a2b-P164 sub-haplogroups, 69.9% being O2a2b-P164, the Y-STR homogeneity within O2a2b-P164 and the very recent age of the sub-haplogroup(363-548 years ago)inKiritimati suggestthe arrival ofa genetically homogenous population to the Gilberteses followed by a population expassion.The close Y-STR haplotype affinities with profiles from the Samoa and Tonga Archipelagos point to an unprecedented massive post-Austronesian expansionexodus from West Polynesia.Contrasting the abundance of AustronesianO2a2b-P164 sub-haplogroup, the most abundantMelanesian/Papuansub-haplogroup,C-M130is present at a frequency of 13.5%. Thenetwork topology suggests that C-M130 arrived to theKiribati Archipelago from West Polynesia, specifically from West Samoa, Tonga and/or Tutuila subsequent to the Austronesian expansion about 832-1408 years ago. The haplotype affinities withinO2a2b-P164 argue for anoriginal source in Taiwan and its dispersal to West Polynesia and then to Southeast Micronesia. The present investigation provides an understanding of the genetic composition and complex migration history of an understudied region of the Pacific and provides evidence for recent dispersals towards Micronesia from West Polynesia subsequent to the initial Austronesian expansion.


Asunto(s)
Cromosomas Humanos Y/genética , ADN Mitocondrial/genética , Genética de Población/métodos , Haplotipos , Migración Humana , Humanos , Micronesia/etnología , Filogenia , Polinesia/etnología , Análisis de Secuencia de ADN
14.
Croat Med J ; 52(3): 336-43, 2011 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-21674829

RESUMEN

AIM: To perform a genetic characterization of 7 skeletons from medieval age found in a burial site in the Aragonese Pyrenees. METHODS: Allele frequencies of autosomal short tandem repeats (STR) loci were determined by 3 different STR systems. Mitochondrial DNA (mtDNA) and Y-chromosome haplogroups were determined by sequencing of the hypervariable segment 1 of mtDNA and typing of phylogenetic Y chromosome single nucleotide polymorphisms (Y-SNP) markers, respectively. Possible familial relationships were also investigated. RESULTS: Complete or partial STR profiles were obtained in 3 of the 7 samples. Mitochondrial DNA haplogroup was determined in 6 samples, with 5 of them corresponding to the haplogroup H and 1 to the haplogroup U5a. Y-chromosome haplogroup was determined in 2 samples, corresponding to the haplogroup R. In one of them, the sub-branch R1b1b2 was determined. mtDNA sequences indicated that some of the individuals could be maternally related, while STR profiles indicated no direct family relationships. CONCLUSIONS: Despite the antiquity of the samples and great difficulty that genetic analyses entail, the combined use of autosomal STR markers, Y-chromosome informative SNPs, and mtDNA sequences allowed us to genotype a group of skeletons from the medieval age.


Asunto(s)
Huesos , Cementerios/historia , Cromosomas Humanos Y/genética , ADN Mitocondrial/análisis , Genética Forense/métodos , Repeticiones de Microsatélite/genética , Factores de Edad , ADN Mitocondrial/genética , Europa (Continente) , Genética Forense/instrumentación , Amplificación de Genes , Haplotipos , Historia Medieval , Humanos , Masculino , Filogenia , España
15.
Forensic Sci Int ; 325: 110859, 2021 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34098475

RESUMEN

The identification of skeletal human remains, severely compromised by putrefaction, or highly deteriorated, is important for legal and humanitarian reasons. There are different tools that can help in the identification process such as anthropological and genetic studies. The success observed during the last decade in genetic analysis of skeletal remains has been possible especially due to the refinements of DNA extraction and posterior analysis techniques. However, despite these progresses, many challenges keep influencing the results of such analysis, mainly the limited amount and the degradation of the DNA recovered from badly preserved samples. By now, there is still no wide-range knowledge about post-mortem kinetics of DNA degradation. Therefore, taphonomy studies can play a key role in the reconstruction of post-mortem transformations that skeletal remains, and consequently DNA, have undergone. Thus, the goal of the present review focuses on the assessment of the literature regarding the possible effect of intrinsic (characteristics of the bone) and extrinsic (environmental) factors on the state of preservation of skeletal remains recovered in a terrestrial environment and their genetic material. The establishment of useful indicators describing the state of the remains is a key factor in order to determine their suitability for posterior biomolecular analysis.


Asunto(s)
Restos Mortales , Degradación Necrótica del ADN , ADN/análisis , Cambios Post Mortem , Densidad Ósea , Huesos/química , Huesos/patología , Colágeno/metabolismo , Dermatoglifia del ADN , Medicina Legal , Agua Subterránea , Humanos , Humedad , Concentración de Iones de Hidrógeno , Suelo/química , Microbiología del Suelo , Temperatura , Diente/química , Diente/patología
16.
Am J Phys Anthropol ; 143(4): 591-600, 2010 Dec.
Artículo en Inglés | MEDLINE | ID: mdl-20721944

RESUMEN

Before the arrival of the Spaniards in Nicaragua, diverse Native American groups inhabited the territory. In colonial times, Native Nicaraguan populations interacted with Europeans and slaves from Africa. To ascertain the extent of this genetic admixture and provide genetic evidence about the origin of the Nicaraguan ancestors, we analyzed the mitochondrial control region (HVSI and HVSII), 17 Y chromosome STRs, and 15 autosomal STRs in 165 Mestizo individuals from Nicaragua. To carry out interpopulation comparisons, HVSI sequences from 29 American populations were compiled from the literature. The results reveal a close relationship between Oto-manguean, Uto-Aztecan, Mayan groups from Mexico, and a Chibchan group to Nicaraguan lineages. The Native American contribution to present-day Nicaraguan Mestizos accounts for most of the maternal lineages, whereas the majority of Nicaraguan Y chromosome haplogroups can be traced back to a West Eurasian origin. Pairwise Fst distances based on Y-STRs between Nicaragua and European, African and Native American populations show that Nicaragua is much closer to Europeans than the other populations. Additionally, admixture proportions based on autosomal STRs indicate a predominantly Spanish contribution. Our study reveals that the Nicaraguan Mestizo population harbors a high proportion of European male and Native American female substrate. Finally, the amount of African ancestry is also interesting, probably because of the contribution of Spanish conquerors with North African genetic traces or that of West African slaves.


Asunto(s)
ADN Mitocondrial/genética , Marcadores Genéticos/genética , Indígenas Centroamericanos/genética , Repeticiones de Microsatélite , Análisis de Varianza , Antropología Física , Cromosomas Humanos Y , Emigración e Inmigración , Femenino , Humanos , Masculino , Nicaragua , Filogenia , Reacción en Cadena de la Polimerasa
17.
J Food Sci ; 84(10): 2719-2728, 2019 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-31578715

RESUMEN

Consistent differences among melting curves of PCR-amplified DNA fragments are treated by normalizing the relative fluorescence units (RFU) and performing a clustering analysis, but statistically significant differences among curves are not usually determined. In the present study, an analysis based on functional data analysis (FDA) was implemented to evaluate the existence of statistically significant differences between normalized RFU curves obtained from PCR-HRM (high-resolution melting) analysis by using ANOVA for functional data. The effectiveness of the FDA method was analyzed with data from a set of samples of eight animal species of interest in food analysis, as well as mixtures of DNA from these species, analyzed by PCR-HRM to differentiate them. The statistical method described in this study has been demonstrated to be a robust and precise tool to discriminate among melting curves derived from HRM analysis. This method has advantages over the current comparison methods. PRACTICAL APPLICATION: As long as food fraud and mislabeling exist, new techniques for species identification are needed. High-resolution melting (HRM) has been shown to be a rapid, reliable and inexpensive species identification method. In the present study, functional data analysis (FDA) was applied to HRM curves of DNA from eight animal species used for food, as well as to mixtures of these species in different proportions. FDA has advantages over the usual methods, providing a deeper statistical analysis and facilitating the data interpretation as shown by the HRM analysis for a clearer comparison among individual species and mixtures of species.


Asunto(s)
ADN/genética , Interpretación Estadística de Datos , Reacción en Cadena de la Polimerasa/estadística & datos numéricos , Vertebrados/genética , Animales , Análisis de los Alimentos , Contaminación de Alimentos/análisis , Carne/análisis , Reacción en Cadena de la Polimerasa/métodos
18.
Eur J Hum Genet ; 27(5): 801-810, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30683925

RESUMEN

In the present study, 87 unrelated individuals from the Marquesas Archipelago in French Polynesia were typed using mtDNA, Y-chromosome and autosomal (STRs) markers and compared to key target populations from Island South East Asia (ISEA), Taiwan, and West and East Polynesia to investigate their genetic relationships. The Marquesas, located at the eastern-most fringes of the Austronesian expansion, offer a unique opportunity to examine the effects of a protracted population expansion wave on population structure. We explore the contribution of Melanesian, Asian and European heritage to the Marquesan islands of Nuku-Hiva, Hiva-Oa and Tahuata. Overall, the Marquesas Islands are genetically homogeneous. In the Marquesan Archipelago all of the mtDNA haplogroups are of Austronesian origin belonging to the B4a1 subhaplogroup as the region marks the end of a west to east decreasing cline of Melanesian mtDNA starting with the West Polynesian population of Tonga. Genetic discrepancies are less pronounced between the Marquesan and Society islands, and among the Marquesan islands. Interestingly, a number of Melanesian, Polynesian and European Y-chromosome haplogroups exhibit very different distribution between the Marquesan islands of Nuku Hiva and Hiva Oa, likely resulting from drift, differential migration involving various source populations and/or unique trading routes.


Asunto(s)
Genética de Población , Alelos , Asia , Australia , Contaminación de ADN , Genotipo , Humanos , Polimorfismo de Nucleótido Simple/genética , Polinesia
19.
Forensic Sci Int Genet ; 37: e1-e5, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30245065

RESUMEN

Discrimination between monozygotic (MZ) twins is a forensic limitation when using conventional DNA profiling techniques for human identification. Recent works based on epigenetics seem to open a new way to solve this issue due to methylation status of MZ twins change during their lifetime. Methylation analysis through BeadChip platforms allows the study up to 850 K CpG sites revealing that numerous differential methylation regions exist between MZ twins. However, this methodology is difficult to implement in forensic laboratories. On the contrary, PCR-HRM (High Resolution Melting) technology is one of the easiest methods for analyzing DNA methylation and it has been capable to discriminate between MZ twins. The purpose of this study is to contribute with new differential methylation regions in MZ twins to those that have been previously studied through PCR-HRM. Here, we have selected 6 CpG regions located at the ITGA2B, ASPA, PDE4C, ZIC5, USP11 and NOP14 loci that have shown methylation status variation during lifetime. The study has been carried out from saliva-derived DNA of 18 MZ twin pairs. The most discriminating regions were those located at ITGA2B, ASPA and ZIC5 loci showing significant within-pair differences in 44.4% of the cases. Non evidences of relation between age and significant differences between MZ twins were found, although the 50% of MZ twin pairs were discrimnated in the oldest age range (59-66 years old). These results support the use of these regions to increase the number of epigenetics age-related markers available to discriminate between MZ twins in a pair by PCR-HRM in forensic laboratories.


Asunto(s)
Islas de CpG/genética , Metilación de ADN , Gemelos Monocigóticos/genética , Adulto , Amidohidrolasas/genética , Fosfodiesterasas de Nucleótidos Cíclicos Tipo 4/genética , Proteínas de Unión al ADN , Epigénesis Genética , Humanos , Integrina alfa2/genética , Persona de Mediana Edad , Reacción en Cadena de la Polimerasa/métodos , Tioléster Hidrolasas/genética , Factores de Transcripción/genética
20.
Forensic Sci Int Genet ; 34: e7-e12, 2018 05.
Artículo en Inglés | MEDLINE | ID: mdl-29588179

RESUMEN

Y-specific short tandem repeat (Y-STR) loci display different mutation rates and consequently are suitable for forensic, genealogical, and evolutionary studies that require different levels of timelines and resolution. Recent efforts have focused on implementing Rapidly Mutating (RM) Y-STRs to assess male specific profiles. However, due to their high mutation rate their use in kinship testing or in phylogenetic studies may be less reliable. In the present study, a novel Slowly Mutating Y-STR (SM) panel, including DYS388, DYS426, DYS461 (Y-GATA-A7.2), DYS485, DYS525, and DYS561, has been developed and evaluated in a sample set of 628 unrelated males from different worldwide populations. This panel is reproducible, sensitive, and robust for forensic applications and may be useful in conjunction with the common multiplexes, particularly in exclusion of kinship cases where minimal discrimination is reported employing the rapidly mutating Y-STR systems. Furthermore, SM Y-STR data may be of value in evolutionary studies to optimize the resolution of phylogenetic relationships generated with current Y-STR panel sets. In this study, we provide an extensive Y-STR allele and haplotype reference dataset for future applications.


Asunto(s)
Cromosomas Humanos Y , Genética de Población , Repeticiones de Microsatélite , Tasa de Mutación , Evolución Molecular , Genética Forense , Frecuencia de los Genes , Haplotipos , Humanos , Masculino , Reacción en Cadena de la Polimerasa , Polimorfismo de Nucleótido Simple , Grupos Raciales/genética
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