SESSION TITLE: Genetic Disorders
SESSION TYPE: Original Investigation Poster
PRESENTED ON: Saturday, April 16, 2016 at 11:45 AM - 12:45 PM
PURPOSE: To identify the causal gene in a PCD patient, whose parents are consanguineous marriage
METHODS: (1) According to medical history and auxiliary examination, a patient with Primary ciliary dyskinesia was identified in a consanguinity family. (2) The peripheral blood of 2 members was collected to extract DNA, including the PCD patient and her healthy son. Then DNA of the 2 members was analyzed by Whole-exome sequencing. (3) SNPs in sequencing data were excluded by the search of TGP database, YH database, ESP database and dbSNP database. (4) The variants carried by the PCD patient and not included in nomal member were selected after SNPs exclusion. (5) According to the characteristic of consanguineous marriage, homozygous mutants were the meaningful mutants and heterozygous mutants were deleted. (6) The selected variants were predicted by three online softwares:SIFT, Mutation Taster and Polyphen-2 to select deleterious variants. (7) The causal mutation was validated again by sanger sequencing. (8) The mutation identified in this article was searched in pubmed, Google scholar and HGMD database. (9) domain analysis, conservation analysis and protein structure prediction were performed.