Novel KIR genotypes and gene copy number variations in northeastern Thais. Issue 3 (23rd October 2017)

• Record Type: Journal Article
• Authors: Chaisri, Suwit; Traherne, James A.; Jayaraman, Jyothi; Romphruk, Amornrat; Trowsdale, John; Leelayuwat, Chanvit
• Is Part Of: Immunology. Volume 153:Issue 3(2018)
• Page Start: 380
• Page End: 386
• Publication Date: 2017-10-23
• Subjects: haplotypes -- KIR copy number -- quantitative PCR; Immunology -- Periodicals
• DOI: 10.1111/imm.12847
• Languages: English
• ISSNs: 0019-2805

Abstract

Summary: 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. Abstract : Gene copy number variations of killer immunoglobulin‐like receptors (KIRs) identified novel KIR copy number profiles in northeastern Thais. These included expanded and contracted KIR profiles.