Analysis of CCR5 gene polymorphisms in 321 healthy Saudis using Next Generation Sequencing
| Autor: | Ibrahim Alabdulkareem, Mohammed Aldrees, Abdulrahman AlAsiri, Wardah Alharbi, G. K. UdayaRaja, Ali Hadadi, Mariam Ballow, Mohammed Al Balwi, Abdulkareem AlAbdulrahman, Ali H. Hajeer |
|---|---|
| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Receptors CCR5 Immunology Population Saudi Arabia Biology Polymorphism Single Nucleotide DNA sequencing 03 medical and health sciences Humans Immunology and Allergy Copy-number variation 1000 Genomes Project education Exome Exome sequencing Sequence Deletion Genetics education.field_of_study Computational Biology High-Throughput Nucleotide Sequencing General Medicine Biological Evolution Healthy Volunteers genomic DNA Genetics Population 030104 developmental biology Reference genome |
| Zdroj: | Human Immunology. 78:384-386 |
| ISSN: | 0198-8859 |
| DOI: | 10.1016/j.humimm.2017.03.003 |
| Popis: | Aims To investigate the extent of CCR5 polymorphism in the healthy Saudi population. Method A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer’s protocol. Whole Exome Sequencing (WES) reads were aligned to the human reference genome (hg19 build) with Torrent Suite Software (v5.0.2) and the variants were called using the Torrent Variant Caller plugin (v5.0) and imported into Ion Reporter Server (v5.0) for the annotation. CCR5 coding exons variants were filtered and checked against the NHLBI GO Exome Sequencing Project (NHLBI), NCBI Reference dbSNPs database, 1000 genomes and Exome Aggregation Consortium datasets (ExAC). Results A total of 475 variants were identified. Table 1 shows polymorphisms/mutations detected within exons that introduced an amino acid change, deletion or copy number variants (CNV). Three mutations are predicted to influence CCR5 function, including the 32 bp deletion (Rs333). Four polymorphisms were detected, plus two CNV. Conclusions 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 were detected within very low frequency including the delta 32 mutation. However, we report for the first time copy number variants at two CCR5 gene locations; 45072265 and 38591712. |
| Databáze: | OpenAIRE |
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