Establishment of sequence-based typing assay for KIR2DS4 gene and identification of a new allele KIR2DS4 *016
10.3760/cma.j.cn511374-20210105-00010
- VernacularTitle:KIR2DS4基因分型方法建立及新等位基因KIR2DS4 *016的鉴定
- Author:
Yunping XU
1
;
Liyan SUN
;
Liumei HE
;
Suqing GAO
Author Information
1. 深圳市血液中心，深圳市输血医学研究所，深圳 518035
- Keywords:
Killer cell immunoglobulin-like receptor KIR2DS4;
Sequence-based typing;
Polymorphism;
Novel allele
- From:
Chinese Journal of Medical Genetics
2022;39(6):581-586
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To establish a reliable sequence-based typing method for KIR2DS4 and study its allele polymorphism in Chinese Han population.Methods:Using PCR - SSP method to detect the positive or negative of KIR2DS4 gene in 222 random Chinese Han individuals, and then using the method of high fidelity and long-fragment PCR - SBT to amplified, sequence and genotype the exons 4 and 5 of KIR2DS4 positive individuals.Results:We successfully amplify the fragment with 3.2 kb length contains exons 4 and 5 of KIR2DS4 and detected the KIR2DS4 allele frequency in Chinese Han population. 209 KIR2DS4 positive individuals were detected, and the positive rate is 94.1%. By sequence-based typing, we identified 12 genotypes and 7 alleles of KIR2DS4. The 6 known alleles and their detection frequency is as follows: KIR2DS4 * 00101/011 (180, 81.1%), KIR2DS4 * 010 (53, 23.9%), KIR2DS4 * 004 (34, 15.3%), KIR2DS4 * 003 (15 and 6.8%), KIR2DS4 * 006 (2, 0.9%) and KIR2DS4 * 015 (1, 0.5%). In this study, we found a new allele, KIR2DS4 * 016, with the difference in exon 5 comparing its most similar allele KIR2DS4 * 010. In the exon 5 of KIR2DS4 * 010, there is a 22bp-deletion, while the exon 5 of KIR2DS4 * 016 is normal. This is not a rare allele because it was detected 3 times in studied population and with the frequency of 1.4%. The sequence of the new allele sequence has been submitted to GenBank (accession no.: KC414890) and the IPD - KIR database (submission no.: IWS40001804), and was nominated by WHO nomenclature committee for HLA system. Conclusion:In this study, a sequence-based typing method for KIR2DS4 was established, and the polymorphism data of KIR2DS4 in Chinese Han population was enriched by studying the allele polymorphism and new allele.
