RESUMEN
This study aimed to test the association of contextual and individual socioeconomic status with tooth loss among Brazilian elderly people aged 65-74 years. Data from 5435 elderly participants from the Brazilian National Oral Health Survey (2010) were linked to city-level data for 27 state capitals and the Federal District. Tooth loss was clinically assessed according to the number of missing natural teeth. Contextual social variables included Human Development Index income (HDI-income) and HDI-education. Individual socioeconomic measures were monthly family income and years of schooling. Covariates included sex, skin colour, number of residents per room and number of goods. Multilevel Negative Binomial regression models were used to estimate rate ratios (RR) and 95% confidence intervals between contextual and individual variables and tooth loss. Contextual and individual income and education measures were consistently associated with tooth loss. Elderly people living in cities with low HDI-income and low HDI-education were respectively 21% and 33% more likely to present tooth loss. Cross-level interaction suggested that the relationship of lower income and lower schooling with tooth loss is different across levels of city-level income and city-level education inequality, respectively. Public policies aiming to reduce the income and education gaps and preventive dental interventions are imperative to tackle tooth loss among elderly people.
Asunto(s)
Factores Socioeconómicos , Pérdida de Diente/epidemiología , Anciano , Brasil/epidemiología , Ciudades , Estudios Transversales , Femenino , Humanos , Renta , Masculino , Análisis Multinivel , Salud BucalRESUMEN
The complete chloroplast genome (cpDNA) sequences of two cultivated species of Morus L. (Morus atropurpurea and Morus multicaulis) are reported and reconstructed in this study, and were compared with that of wild Morus mongolica. In M. atropurpurea, the circular genome is 159,113 bp in size and comprises two identical inverted repeat (IR) regions of 25,707 bp each, separated by a large single-copy (LSC) region of 87,824 bp and a small single-copy (SSC) region of 19,875 bp. The cpDNA sequence of M. multicaulis is longer than that of M. atropurpurea (159,154 bp), and consists of two IRs (25,678 bp), a LSC region (87,763 bp), and a SSC region (20,035 bp). Each cpDNA contains 112 unique genes including 78 protein-coding genes, 30 transfer RNA genes, and 4 ribosomal RNA genes, with a GC content of 36.2%. There were 83 simple sequence repeats (SSRs) with mononucleotides being the most common (60) and di-, tri-, tetra-, and hexanucleotides appearing less frequently in M. atropurpurea. M. multicaulis contains 81 SSRs containing 63 mononucleotide repeats. The genes and SSRs identified in this study may enhance understanding of cpDNA evolution at both intra- and interspecific levels. MEGA 6.0 was used to construct a phylogenetic tree of 27 species, which revealed that M. atropurpurea and M. multicaulis are more related to their congeners than to others. The cpDNA of M. atropurpurea and M. multicaulis and its structural analysis are important for the chloroplast genome project, development of molecular markers for Morus species, and breeding of varieties.
Asunto(s)
ADN de Cloroplastos/genética , Genoma de Planta , Morus/crecimiento & desarrollo , Morus/genética , Secuencia de Bases , Mapeo Cromosómico , Codón/genética , Genes de Plantas , Sitios Genéticos , Funciones de Verosimilitud , Repeticiones de Microsatélite/genética , Filogenia , Especificidad de la EspecieRESUMEN
Osteogenesis imperfecta (OI) is a genetically heterogeneous group of disorders, characterized by abnormal bone fragility, blue sclera, deafness, joint laxity, and soft-tissue dysplasia. The purpose of this study was to elucidate the genetic or molecular basis for OI type IA in a Chinese family. We evaluated the members of a family, in which six individuals are affected with increased bone fragility and blue sclera. Results of exome sequencing revealed a novel 1-bp deletion (c.2329delG, p.A777fs) in exon 33 of the COL1A1 gene in two affected individuals, but not in a control family member without OI. The variation co-segregated with the disease in all the OI patients but not in the unaffected family members. The mutation caused a frameshift alteration after codon 777, leading to premature termination of the COL1A1 protein. Thus, our findings identified a novel frameshift deletion c.2329delG (p.A777fs) in the COL1A1 gene, which is associated with OI type IA in a Chinese family.
Asunto(s)
Pueblo Asiatico/genética , Colágeno Tipo I/genética , Dentinogénesis Imperfecta/genética , Mutación del Sistema de Lectura/genética , Osteogénesis Imperfecta/genética , Eliminación de Secuencia/genética , Cadena alfa 1 del Colágeno Tipo I , Exones/genética , Femenino , Humanos , Masculino , Persona de Mediana Edad , LinajeRESUMEN
Genetic variations within the paired box gene 6 (PAX6) gene are associated with congenital aniridia. To detect the genetic defects in a Chinese twin family with congenital aniridia and nystagmus, exons of PAX6 were amplified by polymerase chain reaction (PCR), sequenced and compared with a reference database. Six members from the family of three generations were included in the study. The twins' father presented with congenital aniridia, nystagmus and cataract at birth, while the twins presented with congenital aniridia and nystagmus. A novel mutation c.888 insA in exon 10 of PAX6 was identified in all affected individuals. This study suggests that the novel mutation c.888 insA is likely responsible for the pathogenesis of the congenital aniridia and nystagmus in this pedigree. To the best of our knowledge, this is the first report of this mutation in PAX6 gene in pedigree with aniridia. Furthermore, no PAX6 gene defect was reported in twins with congenital aniridia.