RESUMEN
Triphalangeal thumb-polysyndactyly syndrome (TPTPS) is an autosomal dominant limb disorder with triphalangeal thumbs, polysyndactyly, and syndactyly. In this study, we describe a four-generation Han Chinese family with eight affected members. Haplotype analysis, Affymetrix SNP 6.0 arrays, qPCR, and gap-PCR were performed. Haplotyping results linked the disease-causing region to the 7q36 region that includes the zone of polarizing activity-regulatory sequence. A 442-kb duplication was found on chromosome 7 that co-segregated with the disease phenotype. The extent of the duplication was determined by qPCR, and the breakpoints were identified by gap-PCR and direct sequencing. This mutation was not detected in normal members in the same family. Our data therefore suggest that this novel microduplication, between 155,913,768 and 156,355,553 bp on chromosome 7, could be considered the cause of TPTPS in this kindred.
Asunto(s)
Anomalías Congénitas/genética , Disostosis Mandibulofacial/genética , Mutación , Linaje , Cromosomas Humanos Par 7/genética , Femenino , Sitios Genéticos , Humanos , MasculinoAsunto(s)
ATPasas Transportadoras de Calcio/genética , Mutación , Pénfigo Familiar Benigno/genética , China , Femenino , Humanos , Masculino , LinajeRESUMEN
Objective: To clarify the age patterns and types of differences so as to provide reference on prevention and interventions of hand, foot and mouth disease (HFMD) cases, in Hubei province. Methods: We collected the HFMD case information of Hubei province from the Chinese National Notifiable Infectious Disease Reporting System in 2009-2015 while the information on pathogens from the laboratory monitoring system of Center for Disease Control and Prevention at all levels in Hubei province. All the data were stratified by age, disease severity, laboratory confirmation status, and serotypes of enterovirus. Results: There were 495 783 reported HFMD cases from 2009 to 2015, in Hubei province, of which 1 045 were severe with 99 fatal. The annual notification rate was 1 231.0/10(6). HFMD cases were concentrated mainly in 0.5-5 year olds, with highest severity and mortality seen in 6-11 month-olds. The predominated pathogen in mild laboratory-confirmed cases each year, in order during 2009-2015 as: EV71, Cox A16, Cox A16, Cox A16, EV71, Cox A16 and other EV. HFMD showed semiannual peaks in April-June, November-December, and with more cases in the even years than in the odd years. Conclusions: Children aged 0.5 to 5 years with 6 to 11 month-olds in particular, were the focused groups of attention in Hubei province. Our findings provided evidence for the improvement on monitoring program. Targeted intervention approaches should be strengthened to reduce the mortality and morbidity of HFMD in the province.
Asunto(s)
Infecciones por Enterovirus/epidemiología , Enterovirus/patogenicidad , Enfermedad de Boca, Mano y Pie/epidemiología , Niño , Preescolar , China/epidemiología , Notificación de Enfermedades , Brotes de Enfermedades , Enterovirus/clasificación , Enterovirus/aislamiento & purificación , Infecciones por Enterovirus/virología , Femenino , Enfermedad de Boca, Mano y Pie/virología , Humanos , Lactante , Masculino , SerogrupoRESUMEN
Resistivity of the diamond films by HFCVD technology is analyzed and studied. The I-V curve of the film is depicted in vertical direction using electrode of aluminum film plated on the surface of the diamond films. Further the resistivity of the films is determined. The following conclusion is derived on the basis of the analysis of Raman, SEM and XRD. The resistivity of the diamond films is in relation to the size of the grains and grain orientation of the surface of the films. The larger in average the grain of the films has, the greater the resistivity of the films is. Besides, the film with grain orientation of (110) has a larger resistivity. In addition, the fewer the defect and impurity of the film has, the larger the resistivity of the films is. Therefore, it is important to add the grain size of the film in average, and to increase the grain orientation rate of (110)/(111) in order to gain diamond films that have larger resistivity and good property of insulation. To reduce the content of structure defect and impurity is also an effect way to raise the resistivity of the films.