换一批
换一批Whole exome sequencing identifies a polymorphism in the EAF2 gene as a risk for the susceptibility and prognosis of idiopathic pulmonary fibrosis in Chinese population
摘要Background and objective: Idiopathic pulmonary fibrosis (IPF) is a complex genetic disorder with unknown etiology and poor prognosis. Several genes had been identified be associated with IPF in Western populations. However, IPF susceptibility variants in Chinese population may be quite different from those in Western population and should be studied separately. Methods: In this study, we performed whole exome sequencing (WES) on 10 peripheral blood DNA samples from Han Chinese patients with classic IPF. After filtering the sequencing data from the dbSNP database and the 1000 Genomes Project, a nonsynonymous variant of EAF2 gene, c.620C>T (p.S207F), was identified and further validated via Sanger sequencing.
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