Relevância da genética na etiologia do autismo

Autism constitutes one of the most important pathologies of the pervasive developmental disorders (PDDs). It has early age-onset and is characterized by delay and deviance of social, communicative and cognitive development. Today, the presence of genetic factors in its etiology is well known, with familial recurrence of autism and other psychiatric conditions. Autism does not have usual Mendelian inheritence and presents genetic heterogeneity. Strong association has been found between autism and the fragile X syndrome (FMR-1 gene) and with tuberous sclerosis (Bourneville's syndrome). However, many different chromosomal abnormalities were recently described in autistic patients, mainly of chromosome 7 and 15. There are some genes on 15q11-q13 whose products have expression in the central nervous system, mainly synapses, which are subunits of neurotransmitters or ion channels (UBE3A, GABRA5, GABRB3, GABRG3, CHRNA7 e ITO). Some regions of chromosome 7 also have important developmental genes, as EN-2 and HOXA, which act on central nervous system formation. There seems then to exist genes associated with autism etiology on chromosomes 7,15 and X. The detailed study of these chromosomes can produce knowledgment about the biological mechanisms involved in this disturbance.

Avaliação da variabilidade genética em quatro gerações de Eucalyptus urophylla S.T. Blake por meio do marcador molecular RAPD

Molecular markers have gradually replaced morphological markers in population studies. The advantages of molecular markers are the speed and precision of evaluations, mainly for long cycle cultures, where determinate traits can take years to manifest. The principle objectives of this research were to assess variability and genetic distances in four generations of Eucalyptus urophylla and provide data that help with the continued improvement of these materials. The populations can be found at the Experimental Forestry Sciences Station, Anhembi, SP, belonging to the College of Agriculture Luiz de Queiroz of São Paulo University. The initial base population was introduced by seeds collected in indonesia and designated P0 generation. The subsequent segregated generations, derivatives of recombination starting with open pollination, were designated P1, P2, and P3. One hundred and seventy four individual trees representing the four generations were analysed. The RAPD technique allowed the identification of 86 loci that were analysed with the Jaccard Coefficient, generating a genetic similarity matrix, permitting the estimation of genetic distances. The genetic distance of generation PO was 0.3338333, P1 was 0.336824, P2 was 0.40000, and P3 was 0.381093. In percentage terms the genetic distances between individuals grew in relation to base population, being 0.15% for generation P1, 18.93% for P2, and 13.31% for P3. This shows an increase in genetic variability with the advance of the program, despite the selective processes. From this came the belief that the initial base population was resulting from seed collection from isolated trees. These populations, although going through successive selections, had a high cross efficiency through satisfactory pollination, which then permitted genetic variation to increase, the outcome of effective recombination between individuals. Generations P2 and P3 gave a better perspective for the continuance of the improvement program due to the high number of different groups with standard genetic distances of 35%. The selections made between the diverse genetic groups allowed the efficient use of genetic variability evaluation.

Caracterização silvicultural, botânica e avaliação da variabilidade genética por meio do marcador molecular RAPD em um teste de progênies de Eucalyptus urophylla S. T. Blake

Molecular markers have recently been incorporated into genetic improvement programs. They are already considered as powerful tools with several different uses, for instance the monitoring of genetic variability in tree populations. The main objectives of this study were to evaluate genetic variability in Eucalyptus urophylla progenies and together with silvicultural and botanical information, provide assistance to the improvement program. The Eucalypts population is located at the Experimental Forestry Sciences Station, Anhembi, SP, which belongs to the College of Agriculture Luiz de Queiroz. Sixty-nine progenies were analysed representing one individual by family in open pollinated Eucalyptus urophylla trees. The RAPD technique allowed the identification of 72 loci that were analysed using Jaccard's Coefficient generating a genetic similarity matrix to permit estimation of genetic distances. The results obtained showed genetic distance between individuals of 0.40 with 12 groups of genetic variability using a standardised distance of 40%. The progenies showed different bark patterns, allowing the establishment of bark groups. The groups formed based on genetic distances obtained using DNA analysis did not correspond to those based on bark pattern. Genetic selection was simulated in which silvicultural and genetic variability data were linked, thus avoiding excessive variability losses. The simulation of controlled crossings allowed the maximum genetic difference to be obtained linked with height and individual bark roughness.

Estrutura genética de populações de Trichilia pallida Swartz (Meliaceae) por marcadores RAPD

Trichilia pallida Swartz is an Atlantic Forest shady climax tree of Meliaceae family that presents insecticide properties against chewing insects like as some family trees, making it interesting for forestry uses. Forty plants of Oito Pontas Farm population were collected in Bofete County, Santa Genebra Ecological Station in Campinas County, and Caetetus Ecological Station in Gélia County, all in the Sao Paulo State, Brazil. Leaf DNA analysis was used by RAPD method, that showed 10 highly polymorphic primers, with 72 dominant markers, used to estimate genetic diversity within and among populations. The polymorphism within populations varied from 90.3 to 97.2%, and the effective allele number varied from 1.46 ± 0.33 to 1.57 ± 0.33, while the average of genetic differentiation of populations varied from 0.27 ± 0.18 to 0, 33 ± 0.15. The gene diversity in the total population (H T) was 0.334 ± 0.02, while the average gene diversity within populations (H s) was 0.292 ± 0.017, and the coefficient of gene differentiation (G ST) was 0.125, Bofete and Campinas populations had the smallest Nei's genetic distance (0.049) and the distances of both with Gália were 0.117 and 0.107, respectively.

Variabilidade genética intrapopulacional em Myracrodruon urundeuva Fr. All. por marcador AFLP

Levels of genetic variability for in situ and ex situ genetic conservation were estimated in a population of Myracrodruon urundeuva using the PCR (polymerase chain reaction) technique with the AFLP (Amplified fragment-length polymorphism) genetic marker. Seeds for progeny tests were collected from 30 open-pollination trees (matrices) at Paulo de Faria Ecological Station - SP. From this genetic material, three progeny tests were installed on the Teaching and Research Farm of Ilha Solteira Faculty of Engineering - University of São Paulo State (UNESP), which is located in Selvlria - MS, Brazil. The analysis by genetic marker was conducted with three combinations of different starters EcoRl-Msel, resulting in a total number of 137 polymorphic bands, thus forming a table of binary data. These data were used for the analysis of genetic divergence and distance between progenies. High levels of genetic divergence were observed among families. Based on the Analysis of Molecular Variance (AMOVA), it was shown that 16.2% of genetic diversity is found among progenies and 83.8% within progenies, which suggests deviances of random matings. The grouping of progenies, based on genetic distances, suggests that progenies deriving from trees which are close to each other tend to be more similar. This, in turn, indicates that the population originating the seeds may be genetically structured.

Efeito do desbaste seletivo sobre a divergência genética em progênies de Pinus caribaea Morelet var. bahamensis

The objective of this work was to study the effect of selective thinning on the genetic divergence in progenies of Pinus caribaea var. bahamensis, aiming to identify the most productive and divergent progenies for the use of improvement program. The test of progenies containing 119 progenies and two commercial controls were planted in March 1990, using 11 × 11 square lattice design, sextuple, partially balanced, disposed in lineal plots with six trees in the spacing of 3,0 × 3,0m. 13 years after planting thinning was realized (selection for DBH), with 50% selection intensity based on Multi-effect index, leaving three trees per plot in all the experiment. The evaluations were done at four situations: A (before the thinning); B (thinned trees); C (remaining trees after thinning) and D (one year after thinning). The analyzed traits were: height, diameter at breast height (DBH), volume, form of stem and wood density. The genetic divergence among the progenies was studied with aid of the canonical variables and of clustering of Tocher method, using the generalized distance matrix of Mahalanobis (D2) as estimate of the genetic similarity. The progenies were grouped in four groups in situation A, fourteen in the situation B, two in the situation C and three in the situation D. The selective thinning of the trees within of the progenies caused a change in the genetic divergence among the progenies, genetically homogenizing the progenies, as demonstrated by the generalized distances of Mahalanobis, clustering of Tocher' and canonical variables methods. The thinning made possible a high uniformity in respect to the relative contribution of the traits for the total genetic divergence. The techniques of clustering were efficient to identify groups of divergent progenies for the use hybridization and little divergent progenies for the use in backcross program.

Variabilidade genética na porção codificadora para a proteína capsidial do Lettuce big-vein associated virus e Mirafiori lettuce big-vein virus provenientes de alface no Brasil

Lettuce big vein associated virus (LBVaV) and Mirafiori lettuce big vein virus (MLBVV) have been found in mixed infection in Brazil causing the lettuce big vein disease. Analysis of part of the coat protein (CP) gene of Brazilian isolates of LBVaV collected from lettuce, showed at least 93% amino acid sequence identity with other LBVaV isolates. Genetic diversity among MLBVV CP sequences was higher when compared to LBVaV CP sequences, with amino acid sequence identity ranging between 91% to 100%. Brazilian isolates of MLBVV belong to subgroup A, with one RsaI restriction site on the coat protein gene. There is no indication for a possible geografical origin for the Brazilian isolates of LBVaV and MLBVV.

Evaluación genética de búfalos de la raza Murrah para la producción de leche en el día de control y a los 305 días de lactancia

There were analyzed 4757 complete lactations of the Murrah breed, daughters of 187 bulls, with the goal of verifying the viability upon employing the test-day (PDLC), on substitution of the milk yield at 305th day of lactation (PL305), in the genetic evaluations. The components of variance for the PDLC1 to PDLC9 and for the PL305 were estimated in uni-traits analysis according to maximum restricted likelihood method. The used model included the genetic direct additive random effects, of residual and permanent environment. There were considered as fixed effects, the contemporary group and the number of milkings and the age of the cow at the moment of parity co-variable (quadratic and linear effect). The contemporary groups were constituted by the herd-year-month of control for the PDLC and by herd-year-epoch of parity for PL305. The estimates of heritability for the PDLC and PL305 were 0.12 to 0.23 and 0.22, respectively. The correlations of order of the predicted genetic values for the 187 bulls, obtained between the PDLC and the PL305, were from moderate to high, varying from 67.74 to 83.12. From the minimum selection of the 10% of the best bulls relating to the predicted genetic value for the PL305, the coincidence among the classification of these animals was over 68%, when evaluated by the PDLC3,PDLC4,PDLC5 and PDLC6. Upon selecting the 5% of the best animals that coincidence presented a lower value.

Variação genética para compostos bioquímicos em sementes de duas populações naturais de Genipa americana L.: 1-análises individuais e univariada

Brazil is one of the world's richest countries in forest biodiversity. This has a great importance for humanity for sheltering essential scientific potential for the improvement in the quality of living beings. It also contributes to the preservation of natural resources and the environment. Among Brazil's forest species, jenipapo (Genipa americana L.) is commonly found in riparian vegetation. The objective of this work was to quantify the genetic variability of biochemical traits of seeds, as a support for in situ and ex situ conservation of natural populations of G. americana L. Two populations of the species were studied: one from Ilha Solteira, SP region (ISA) and other from Mogi Guaçu, SP (MOG). In the ISA population, seeds were collected from 30 trees, and in the MOG population, from 22 trees. These seeds were analyzed for chemical composition: content of proteins, carbohydrates, lipids and starch. The two populations of G. americana studied had a great genetic variation for these traits. The population ISA had an additive and phenotypic correlation, which was negative and high for starch with lipid; and positive and medium, for lipid with prolamine, as well as for globulin with prolamine. The population MOG presented additive and phenotypic correlations: positive and medium for gluteline with globulin. In these populations, narrow sense heritability estimates of progenies were moderate (0.69 for carbohydrates in the population ISA) to high (0.81 to 0.99 for the other traits in the two populations), indicating that much progress can be expected with selection strategies.

Variação genética, interação genótipo solo e ganhos na seleção em teste de progěnies de Corymbia citriodora Hook em Luiz Antonio, São Paulo

The aim of this study was to investigate the genetic variation, the genotype × soil interaction and the selection among and within Corymbia citriodora progenies in three different kinds of soils (Red Latossol, Quartz Sand and Purple Latossol), which occur in the Luiz Antônio Experimental Station, São Paulo State, Brazil. The progeny test was established 1983, using 56 open-pollinated families of C. citriodora. Twenty fve years after planting the following traits were measured: height, diameter at breast height (Dbh), stem form and survival. Best growth occurred in Purple Latossol. Significant differences among progenies were detected for most traits in all sites, suggesting the possibility of improvement by selection. In the analysis with sites, Significant differences among locals, progenies and genotypes × soil interaction were detected, confiming that the tested material has sufficient genetic variation to be explored by selection in all sites. The analysis of genotype × soil interaction indicates that growth traits present single interaction and the same progenies can be selected in each site. On the order hand, genotype × soil interaction for stem form and survival was complex; and specifc progenies need to be selected for each kind of soil. The population, due to its high genetic variation and strong genetic control of traits, permits to obtain considerable genetic gains by selection among and within progenies.

Variação genética para caracteres anatômicos e retração volumétrica e sua correlação com a densidade básica da madeira em uma população base de Eucalyptus camaldulensis Dehn

Eucalyptus camaldulensis has great importance in Brazil because of their phenotypic plasticity for different environmental conditions, as soils, altitudes and rainfall. This study is an investigation of a base population of E. camaldulensis from Australia through a progeny test implanted in Selvíria, MS. The trial was established in a randomized block design, with 25 families and 60 replications of single tree plots. Genetic parameters for anatomic traits and volume shrinkage were estimated, as well as their correlations with wood basic density. No significant differences among progenies were observed for the traits studied. The additive genetic variation coefficient at individual and among progeny levels ranged from low (0.26%) to high (16.98%). The narrow sense heritability at individual and family means levels also ranged from low (0.01) to high (0.87). This indicates that some traits are under strong genetic control and can be improved by selection. In the present situation, in order to attain the highest genetic gains, the sequential selection among and within progeny would be recommended.

Descrição do conceito de deficiência a partir da mídia cinematográfica: uma análise comportamental

This work pointed out forming elements from the conception of special necessities that the media show the audience by the movies. An expression description has established special needs and they were identified as keywords on a search of movies (1994-2004) which were analyzed by two observers, according to a script. The results showed that 33 of the movies selected, 39.9% were classified in the ramacategory; 64% shows the disability as organic nature and 57% with predominant clinic diagnoses. Many labeled practices were identified (85%) and few accessibilities options (76%). In 85% of the movies the disability is said a manifestation of problems with few (58%) professionals intervention. The results are discussed by the media role on the concept formation of disabilities, offering interaction models with important role on social practice specification or unsuitable to the relation with the diversity and to the culture.

Variação genética para caracteres silviculturais e anatômicos da madeira em progênies de Myracrodruon urundeuva (Engler) Fr. Allem

The aims of this study were to evaluate the variation and to estimate genetic parameters for silvicultural anatomic wood traits for genetic breeding of a Myracrodruon urundeuva (Engler) Fr. Allem, population from Selvíria-MS. For this, from samples of a progeny test established in the Fazenda de Ensino, Pesquisa e Extensão da Faculdade de Engenharia de Ilha Solteira/UNESP, macroscopic anatomic wood traits of M. urundeuva (tangential diameter and vases frequency per mm2) and growth traits were measured (height, DBH and stem form). Genetic parameters were estimated in 28 open-pollinated progenies, in three replications and 10 plants per plot, using a REML/BLUP approach. Between the analysed traits, the DBH is the most indicated for selection for timber production, because it presented the highest values of coefficient of genetic variation, heritabilities and selective accuracy. Between the anatomic traits, the vessels frequency in the pith showed the highest values for genetic parameters. For pulp yield, based on the multi-effect index, the strategy of selecting the best trees for vessels frequency in the pith, independent of the progeny, permitted to obtain substantial gains by mass selection, without progeny test.

Diversidade genética de acessos de Nephelium lappaceum L. através de caracterização morfológica e molecular

The rambutan (Nephelium lappaceum) is an exotic fruit with great market potential in Brazil. However, there are few available informations about plants with potential for cultivation, because great morphologic variation is observed among plants and for consequence, little uniformity in the orchards and in the fruits. This research had for objective to evaluate the genetic diversity of a collection of rambutan plants obtained by seeds through morfo-chemical analyses of plants and fruits and by fAFLP molecular markers, to indication of promising materials to be used in new plantings of the culture in the São Paulo State. Was verified that both markers, morphologic and molecular, were efficient in the distinction of varieties, showing the presence of genetic variability among the plants of this study. Was also verified that the materials A51 and B03 presented a larger group of desirable characteristics for new cultivations of the fruitful.

Dissimilaridade genética e análise de trilha de cultivares de soja avaliada por meio de descritores quantitativos

In addition to the evaluations among genotypes, the use of multivariate techniques enables to restrict errors, mainly concerning genetic diversity, and therefore to predict combinations with greater heterotic effect, and the greater possibility of recovery of superior genotypes. The objective of this study was to evaluate the genetic divergence between 18 soybean cultivars based on six morphological characteristics. Path analysis was performed to verify the contribution of direct and indirect characters on grain yield. The Mahalanobis distance has founded techniques of both Tocher Method and dendrogram by Single Linkage. Five different groups were formed: with nine genotypes considered similar among them; while the cultivars CEP 59, Netuno and Urano formed groups isolated by the two grouping methods. The path analysis showed that the indirect characters had little influence on grain yield, with significant direct relationship with mass of 100 grain, and cultivars Tertulha and CEP 53 standing out with grain yields above 3.7 t.ha-1.