Novel KIR genotypes and gene copy number variations in northeastern Thais |
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| Authors: | Suwit Chaisri James A. Traherne Jyothi Jayaraman Amornrat Romphruk John Trowsdale Chanvit Leelayuwat |
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| Affiliation: | 1. Chulabhorn International College of Medicine (CICM), Thammasat University, Klong Luang, Thailand;2. The Centre for Research and Development of Medical Diagnostic Laboratories (CMDL), Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand;3. Division of Immunology, Department of Pathology, University of Cambridge, Cambridge, UK;4. Blood Transfusion Centre, Faculty of Medicine, Khon Kaen University, Khon Kaen, Thailand;5. Department of Clinical Immunology and Transfusion Sciences, Faculty of Associated Medical Sciences, Khon Kaen University, Khon Kaen, Thailand |
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| Abstract: | KIR (Killer Immunoglobulin‐like Receptor) variants influence immune responses and are genetic factors in disease susceptibility. Using sequence‐specific priming PCR, we have previously described the diversity of KIR genes in term of presence/absence in northeastern Thais (NETs). To provide additional resolution beyond conventional methods, quantitative PCR was applied to determine KIR copy number profiles. Novel expanded and contracted KIR copy number profiles were identified at cumulatively high frequencies. These all comprise haplotypes with duplication (6·9%) or deletion (2·7%) of KIR3DL1/S1 along with adjacent genes. Five expanded KIR profiles comprised haplotypes with duplications of KIR2DP1, 2DL1, 3DP1, 2DL4, 3DL1/S1 and 2DS1/4, whereas two contracted profiles contained only a single copy of KIR3DP1, 3DL1/S1 and 2DL4. Using a KIR haplotype prediction program (KIR Haplotype Identifier), 14% of NET haplotypes carried atypical haplotypes based on the gene copy number data. |
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| Keywords: | haplotypes KIR copy number quantitative PCR |
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