Variabilidade na coordenação motora: uma abordagem centrada no delineamento gemelar

O propósito deste estudo foi estimar a contribuição dos fatores genéticos e ambientais na variabilidade do desempenho interindividual na coordenação motora. A amostra foi constituída por 64 pares de gêmeos portugueses, com idades entre cinco e 14 anos. Avaliou-se o desempenho da coordenação através das quatro provas da bateria KTK: equilíbrio à retaguarda (ER); saltos monopedais (SM); transposição lateral (TL); saltos laterais (SL). Calculou-se o coeficiente de correlação intraclasse (t), sendo estimada a contribuição dos fatores genéticos (a²), ambientais comuns (c²) e únicos (e²). Os resultados mostram valores de t mais elevados entre gêmeos monozigóticos, sugerindo presença de fatores genéticos. Entretanto, estimativas de a² foram baixas, variando entre 15% (TL) e 41% (SM), enquanto para c² situaram-se entre 46% (SL) e 58% (TL), e para e² entre 11% (SM) e 28% (TL). Conclui-se que fatores ambientais são responsáveis pela maior parcela de influência na variabilidade do desempenho na coordenação motora.El objetivo del presente estudio fue estimar la contribución de los factores genéticos y ambientales en la vEl objetivo del presente estudio fue estimar la contribución de los factores genéticos y ambientales en la variabilidad del desempeño interindividual en la coordinación motora. La muestra fue constituida por 64 pares de gemelos portugueses, con edades entre 5 y 14 años. Se evaluó el desempeño de la coordinación a través de las cuatro pruebas de la batería KTK: equilibrio a la retaguardia (ER); saltos monopedales (SM); transposición lateral (TL); saltos laterales (SL). Se calculó el coeficiente intraclase (t), siendo estimada la contribución de los factores genéticos (a²), ambientales comunes (c²) y únicos (e²). Los resultados muestran valores t mas elevados entre gemelos monocigóticos, sugiriendo la presencia de factores genéticos. Por otro lado, estimaciones de a² fueron bajas, variando entre 15% (TL) y 41% (SM), mientras para c² se sitúan entre 46% (SL) y 58% (TL), y para e² entre 11% (SM) y 28% (TL). Se concluye que factores ambientales son responsables por la mayor porción de influencia de la variabilidad del desempeño en la coordinación motora.The purpose of this study was to estimate the contribution of environmental and genetic factors on the variability of interindividual performance in motor coordination. Sample comprised 64 twin pairs, aged 5 to 14 years old, from Portugal. Motor coordination was evaluated by KTK battery: backward balance (ER); hopping on one leg (SM); shifting platforms (TL); jumping sideways (SL). Intraclass correlation coefficient (t) was calculated. Contributions of genetic (a²), shared (c²) and unique environmental (e²) factors were estimated. Our results showed t values higher in monozygotic twins, suggesting the presence of genetic factors. Nevertheless, a² estimates were low, ranging from 15% (TL) to 41% (SM), while to common environment (c²) ranged from 46% (SL) to 58% (TL), and unique effects ranged from 11% (SM) to 28% (TL). These results suggest that environmental factors are responsible for the greatest part of influence on variability of interindividual performance in motor coordination tests

Supplementary Material for: SNPs as Supplements in Simple Kinship Analysis or as Core Markers in Distant Pairwise Relationship Tests: When Do SNPs Add Value or Replace Well-Established and Powerful STR Tests?

<b><i>Background:</i></b> Genetic tests for kinship testing routinely reach likelihoods that provide virtual proof of the claimed relationship by typing microsatellites – commonly consisting of 12–15 standard forensic short tandem repeats (STRs). Single nucleotide polymorphisms (SNPs) have also been applied to kinship testing but these binary markers are required in greater numbers than multiple-allele STRs. However SNPs offer certain advantageous characteristics not found in STRs, including, much higher mutational stability, good performance typing highly degraded DNA, and the ability to be readily up-scaled to very high marker numbers reaching over a million loci. This article outlines kinship testing applications where SNPs markedly improve the genetic data obtained. In particular we explore the minimum number of SNPs that will be required to confirm pairwise relationship claims in deficient pedigrees that typify missing persons’ identification or war grave investigations where commonly few surviving relatives are available for comparison and the DNA is highly degraded. <b><i>Methods: </i></b>We describe the application of SNPs alongside STRs when incomplete profiles or allelic instability in STRs create ambiguous results, we review the use of high density SNP arrays when the relationship claim is very distant, and we outline simulations of kinship analyses with STRs supplemented with SNPs in order to estimate the practical limit of pairwise relationships that can be differentiated from random unrelated pairs from the same population. <b><i>Results:</i></b> The minimum number of SNPs for robust statistical inference of parent-offspring relationships through to those of second cousins (S-3-3) is estimated for both simple, single multiplex SNP sets and for subsets of million-SNP arrays. <b><i>Conclusions:</i></b> There is considerable scope for resolving ambiguous STR results and for improving the statistical power of kinship analysis by adding small-scale SNP sets but where the pedigree is deficient the pairwise relationships must be relatively close. For more distant relationships it is possible to reduce chip-based SNP arrays from the million+ markers down to ∼7,000. However, such numbers indicate that current genotyping approaches will not be able to deliver sufficient data to resolve distant pairwise relationships from the limited DNA typical of the most challenging identification cases

Genetics Unveil the Genealogical Ancestry and Physical Appearance of an Unknown Historical Figure: Lady Leonor of Castile (Spain) (1256–1275).

[En] Through this study, it has been possible to establish an accurate prediction of the physical characteristics, biogeographical origin, and genealogical ancestry of a previously obscured historical figure: The Princess Lady Leonor of Castile (1256–1275), one of the legitimate daughters of the Spanish King Alfonso X “The Wise”. The genetic analysis of External Visible Characteristics in the mummified remains attributed to this Princess has allowed determining her origin by mitochondrial and nuclear DNA analysis, and her physical appearance for hair, eyes, and skin color by autosomal SNPs. The results show that the mummified remains correspond to a young European woman with black hair, green-hazel eyes, and white skin. Her physical appearance has not been possible to be compared with any pictorial source, but the biogeographical analysis results are consistent with the historiographic genealogical information