Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters

Two daughters of a nonconsanguineous couple are described. Both present mental retardation, epileptic seizures, congenital atrichia, histologically anomalous skin and abnormal EEG pattern. From a discussion of the literature on atrichia, the forms without involvement of teeth, nails and hidrosis, among which recessive inheritance prevails, are distinguished from each other. None of them coincide with the syndrome described here.

Imputation of microsatellite alleles from dense SNP genotypes for parentage verification across multiple Bos taurus and Bos indicus breeds

To assist cattle producers transition from microsatellite (MS) to single nucleotide polymorphism (SNP) genotyping for parental verification we previously devised an effective and inexpensive method to impute MS alleles from SNP haplotypes. While the reported method was verified with only a limited data set (N = 479) from Brown Swiss, Guernsey, Holstein, and Jersey cattle, some of the MS-SNP haplotype associations were concordant across these phylogenetically diverse breeds. This implied that some haplotypes predate modern breed formation and remain in strong linkage disequilibrium. To expand the utility of MS allele imputation across breeds, MS and SNP data from more than 8000 animals representing 39 breeds (Bos taurus and B. indicus) were used to predict 9410 SNP haplotypes, incorporating an average of 73 SNPs per haplotype, for which alleles from 12 MS markers could be accurately be imputed. Approximately 25% of the MS-SNP haplotypes were present in multiple breeds (N = 2 to 36 breeds). These shared haplotypes allowed for MS imputation in breeds that were not represented in the reference population with only a small increase in Mendelian inheritance inconsistancies. Our reported reference haplotypes can be used for any cattle breed and the reported methods can be applied to any species to aid the transition from MS to SNP genetic markers. While ~91% of the animals with imputed alleles for 12 MS markers had ≤1 Mendelian inheritance conflicts with their parents' reported MS genotypes, this figure was 96% for our reference animals, indicating potential errors in the reported MS genotypes. The workflow we suggest autocorrects for genotyping errors and rare haplotypes, by MS genotyping animals whose imputed MS alleles fail parentage verification, and then incorporating those animals into the reference dataset.

Armazenamento, tolerância à dessecação e o potencial fisiológico de sementes de híbridos de milho e seus recíprocos

Conselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)

Conceitos de gene: construção histórico-epistemológica e percepções de professores do Ensino Superior

Considering the importance that the discussion of concepts related to genetics has on the society and the necessity to approach science as a dynamic and historical activity, it will be discussed an essential concept to the understanding of biological inheritance: the concept of gene. This way, the article aims to discuss the differents concepts of genes in the history of biology and the relevance of addressing in teaching context this concept in a systemic perception of phenomena. Also, the paper have an analyses of the ideas about the concept of the gene from teachers from two university. The results indicate the presence of different definitions of the gene in the discourse of university teachers, with the predominance of gene concept as a structural, functional and/or informational unit.

Características fenotípicas do nanismo em pôneis neonatos: relato de casos

Three newborn Mini-Horses and one Brazilian Pony horses were presented to the Veterinary Hospital with phenotypic appearance of dwarfism. They had relatively larger head conformation, occlusive dental defect and musculoskeletal changes such as abnormal short limbs and deformation on the third metatarsal bone. The radiographic examination showed abnormal growth plates on femoral condyle and proximal thirds metatarsal bones. Due to the high possibility of future complications and quality of life loss, the animals were euthanized. We emphasize the importance of recognition of phenotypic changes related to dwarfism in horses, enabling the phenotypic diagnosis can direct crossings for nontransmission of this abnormality as genetic inheritance.

O direito de pertencer a si mesmo: a despatologização do transexualismo e sua regulamentação jurídica como direito fundamental ao gênero

Pós-graduação em Direito - FCHS