RESUMO
<p><b>OBJECTIVE</b>To investigate a non-syndromic deafness family in which potential interaction between the GJB2 gene and a mitochondrial gene appeared to be the cause of hearing impairment.</p><p><b>METHODS</b>Audiological examination was performed by pure-tone audiometry (PTA). Blood samples from 8 members of the pedigree were obtained. DNA was extracted from the leukocytes. The coding region of the GJB2 gene and mitochondrial DNA target fragments were amplified by polymerase chain reaction (PCR). The PCR products were analyzed by sequencing.</p><p><b>RESULTS</b>Direct sequencing showed that the proband had both a heterozygous mutation of 235delC in the GJB2 gene and a mitochondrial 1555 A to G mutation. The proband had profound hearing loss. The maternal relatives had sensorineural hearing loss in the higher frequencies or no hearing loss.</p><p><b>CONCLUSION</b>The GJB2 mutations may be an aggravating factor in the phenotypic expression of the non-syndromic hearing loss associated with the A1555G mitochondrial mutation.</p>
Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Alelos , Sequência de Bases , Conexina 26 , Conexinas , Genética , Análise Mutacional de DNA , DNA Mitocondrial , Genética , Genótipo , Perda Auditiva , Genética , Dados de Sequência Molecular , Mutação , Linhagem , Fenótipo , Polimorfismo de Nucleotídeo ÚnicoRESUMO
Objective To evaluate the effect of pulmonary function test on infants with obstructive sleep apnea-hypopnea syndrome (OSAHS). Methods Forty-eight patients were divided into two groups based on physical examination. Pulmonary function were measured in 48 patients. Age-matched healthy infants were enrolled as controls. The parameters included ratio of volume to PEF to total expiratory volume(VPTEF/VE,tPTEF/tE),inspiratory time/expiratory time(TI/tE),inspiratory time/total respiratory time(TI/Ttot),ratio of 50% of the tital inspiratory flow to tital volume(TIF_ 50 /V_T),mean inspiratory flow(V_T/TI),function capacity(FRCp),resistance effective(Reff).Results TI/Ttot,ratio of 50% of the tital expiratory flow to 50% of the tital inspiratory flow(TEF_ 50 /TIF_ 50 ),FRCp,Reff were significantly higher in patients compared with controls(P