P121 dr

To study the extent of CCR5 gene polymorphism in health Saudi population. DNA was available on a total of 321 healthy Saudi individuals. Whole exome sequencing was carried out using ion Ampliseq exome RDY panel and Ampliseq library kit on Ion Chef System (Life Technologies, USA) following manufacturer’s protocol. Each library was sequenced on an Ion Proton instrument (Life Technologies, USA) using one ION PI chip kit V3 BC. Sequence reads were aligned to the human reference genome (HG19 build), filtering of low quality read using Torrent Suite (v5.0.2) and the variants were called using the Torrent Variant Caller plugin (v5.0) and imported into Ion Reporter Server (v5.0). Variants that were predicted to be located within CCR5 coding exons were selected and then were checked against 5000 genomes Minor Allele Frequencies, the Exome Sequencing Project (http://evs.gs.washington.edu/EVS/) and SNPs referenced in the NCBI database (ftp://ftp.ncbi.nlm.nih.gov/pub/clinvar/vcf_GRCh37/). A total of 475 variants were found. Table 1 shows polymorphisms/mutations detected in exons that introduced an amino acid change, deletion or copy number variants. Three mutations are predicted to influence CCR5 function, including the 32bp deletion (Rs333). Four polymorphisms were detected, plus two CNV. This is the first report on sequencing the full CCR5 gene using NGS in the Saudi population. Here we demonstrate seven polymorphisms/mutations that were reported before. All at very low frequency including the D32 mutation. However, we report for the first time copy number variants at two CCR5 gene locations; 45072265 and 38591712. A.H. Hajeer: Grant/Research Support; Company/Organization; KAIMRC.