RESUMO
<p><b>OBJECTIVE</b>To detect mutation of GPR143 gene in a Chinese patient affected with ocular albinism.</p><p><b>METHODS</b>Peripheral blood samples were collected from the proband and his parents. The coding regions of the GPR143 gene were subjected to PCR amplification and Sanger sequencing.</p><p><b>RESULTS</b>A previously unreported mutation (c.758T>A) was found in exon 6 of the GPR143 gene in the proband and his mother. The same mutation was not found in his father. As predicted, the mutation has resulted in a stop codon, causing premature termination of protein translation.</p><p><b>CONCLUSION</b>A novel mutation of the GPR143 gene related to X-linked ocular albinism has been identified.</p>
Assuntos
Adulto , Feminino , Humanos , Lactente , Masculino , Albinismo Ocular , Genética , Povo Asiático , Genética , Sequência de Bases , Proteínas do Olho , Genética , Doenças Genéticas Ligadas ao Cromossomo X , Genética , Glicoproteínas de Membrana , Genética , Dados de Sequência Molecular , MutaçãoRESUMO
Pulmonary diseases are seriously harmful to the health of the newborns and children.Understanding the pathogenesis of pulmonary diseases,carrying out effective prevention and accurate diagnosis are challenges for pediatrician.Previous study demonstrated that lung development defects are source of disease susceptibility and closely associated with newbom's and children(s) pulmonary diseases.This article will focus on lung development,introducing the impact factor and the key regulatory molecules about lung development and pulmonary development defect related diseases which will provide important insights for clinician to explore the mechanism of pulmonary diseases.