文章基本信息

标题：Identification of Three Novel Mutations in the FANCA, FANCC, and ITGA2B Genes by Whole Exome Sequencing
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作者：Samira Negahdari ; Mina Zamani ; Tahereh Seifi 等
期刊名称：INTERNATIONAL JOURNAL OF PREVENTIVE MEDICINE
印刷版ISSN：2008-7802
出版年度：2020
卷号：11
DOI：10.4103/ijpvm.IJPVM_462_19
语种：English
出版社：ISFAHAN UNIVERSITY OF MEDICAL SCIENCES
摘要：Background: Various blood diseases are caused by mutations in the FANCA, FANCC, and ITGA2B genes. Exome sequencing is a suitable method for identifying single-gene disease and genetic heterogeneity complaints. Methods: Among families who were referred to Narges Genetic and PND Laboratory in 2015-2017, five families with a history of blood diseases were analyzed using the whole exome sequencing (WES) method. Results: We detected two novel mutations (c.190-2AG and c.2840CG) in the FANCA gene, c. 1429dupA mutation in the FANCC gene, and c.1392AG mutation in the ITGA2B gene. The prediction of variant pathogenicity has been done using bioinformatics tools such as Mutation taster PhD-SNP and polyphen2 and were confirmed by Sanger sequencing. Conclusions: WES could be as a precise tool for identifying the pathologic variants in affected patient and heterozygous carriers among families. This highly successful technique will remain at the forefront of platelet and blood genomic research.