RESUMO
The Polyploid Gene Assembler (PGA), developed and tested in this study, represents a new strategy to perform gene-space assembly from complex genomes using low coverage DNA sequencing. The pipeline integrates reference-assisted loci and de novo assembly strategies to construct high-quality sequences focused on gene content. Pipeline validation was conducted with wheat (Triticum aestivum), a hexaploid species, using barley (Hordeum vulgare) as reference, that resulted in the identification of more than 90% of genes and several new genes. Moreover, PGA was used to assemble gene content in Saccharum spontaneum species, a parental lineage for hybrid sugarcane cultivars. Saccharum spontaneum gene sequence obtained was used to reference-guided transcriptome analysis of six different tissues. A total of 39,234 genes were identified, 60.4% clustered into known grass gene families. Thirty-seven gene families were expanded when compared with other grasses, three of them highlighted by the number of gene copies potentially involved in initial development and stress response. In addition, 3,108 promoters (many showing tissue specificity) were identified in this work. In summary, PGA can reconstruct high-quality gene sequences from polyploid genomes, as shown for wheat and S. spontaneum species, and it is more efficient than conventional genome assemblers using low coverage DNA sequencing.
Assuntos
Genoma de Planta , Saccharum/genética , Sequenciamento Completo do Genoma , Perfilação da Expressão Gênica , Regulação da Expressão Gênica de Plantas , Genes de Plantas , Hordeum/genética , Especificidade de Órgãos , Filogenia , Análise de Sequência de RNA , Triticum/genéticaRESUMO
The auditory neuropathy is a condition which there is a dyssynchrony in the nerve conduction of the auditory nerve fibers. There is no evidence about the relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene. There are only two studies about this topic in the medical literature. Connexin 26 (GJB2 gene) mutations are common causes of genetic deafness in many populations and we also being reported in subjects with auditory neuropathy. OBJECTIVE: To analyze the pattern of clinical relationship between patients with clinical diagnosis with auditory neuropathy spectrum disorder and GJB2 gene. PATIENTS AND METHODS: Study Design - Retrospective analysis and genetic evaluation. Setting - Tertiary referral center. Subjects - 40 patients with Auditory Neuropathy Spectrum Disorder. Intervention - Clinical information and genetic evaluation (GJB2 gene) were analyzed. RESULTS: Biallelic mutations that accounted for hearing loss (HL) were found in three patients, both with c.35delG mutation in homozygous state. The splice site mutation IVS1+1G>A was detected in heterozygous state in one individual. However, since the second mutant allele was not identified, it was not possible to establish its correlation with the phenotype. CONCLUSION: Mutations in GJB2 gene mutations were found in 7.5% of the patients with ANSD. We found no relationship between patients with clinical auditory neuropathy spectrum disorder and mutations in GJB2 gene (p>0.05).
RESUMO
AIM: To compare the audiometric thresholds and speech perception sentence test, between two groups with bilateral post-lingual, severe to profound sensorineural hearing loss. METHODS: Retrospective and analytical study, with 59 patients divided into 2 groups (under 60 years and above 60 years old) implanted between May/2002 and February/2007. RESULTS: The first group (control) included 30 patients with a mean age of 44 years. The audiometric threshold value in this group was 26 dB, and the average value of speech perception test was 94%. The second group included 29 patients with a mean age of 69 years. The average audiometric threshold was 29 dB, and the average value of SPT was 90%. The Mann-Whitney U-test was considered significant (P<0.05) only for 6-8 KHz frequencies and for SPT. CONCLUSION: Both groups had excellent outcomes in audiometric and speech testing with the use of CI, but with a significantly better performance in the adult group.