A novel rare copy number variant of the ABCF1 gene identified among dengue fever patients from Peninsular Malaysia

• Main Authors: AbuBakar, S. (Author), Hoh, B.P (Author), Mahiran, M. (Author), Nik Khairudin, N.Y (Author), Rafidah Hanim, S. (Author), Sam, S.S (Author), Umi, S.H (Author)
• Format: Article
• Language: English
• Published: Fundacao de Pesquisas Cientificas de Ribeirao Preto 2014
• Subjects: ABC transporter; ABCF1; ABCF1 gene; ABCF1 protein, human; article; ATP-Binding Cassette Transporters; copy number variation; cytokine storm; dengue; Dengue; disease association; DNA Copy Number Variations; gene; gene amplification; gene dosage; gene location; gene loss; genetic association; genetic predisposition; Genetic Predisposition to Disease; genetic variability; Genetic Variation; genetics; genotype; Genotype; hospital patient; human; Humans; major clinical study; Malaysia; MHC; nucleotide sequence; pathology; qPCR; Rare copy number variation; real time polymerase chain reaction; telomerase reverse transcriptase; TERT gene
• Online Access: View Fulltext in Publisher; View in Scopus
• ISBN: 16765680 (ISSN)
• DOI: 10.4238/2014.February.19.9

Copy number variation (CNV) is a form of genetic variation in addition to single nucleotide polymorphisms. The significance of CNV in the manifestation of a number of diseases is only recently receiving considerable attention. We genotyped 163 dengue patients from Peninsular Malaysia for genes possibly linked to dengue infection using quantitative real-time PCR. Here, we report a serendipitous discovery of a novel rare CNV of the ABCF1 gene among the dengue patients. Among these patients, two had a gain of 1 copy (CN = 3) and one had lost 1 copy (CN = 1), indicating that a rare CNV of the ABCF1 gene was detected among dengue patients from Peninsular Malaysia. Although the gene is suspected to regulate inflammatory responses and pathogen-induced cytokine storm, its relevance to dengue requires further investigation. © FUNPEC-RP.