Characteristics of KIR3DP1 gene haplotypes among Zhejiang Han Chinese population revealed by next- generation sequencing.
10.3760/cma.j.cn511374-20250326-00182
- Author:
Sudan TAO
1
;
Xuan YOU
;
Qimin WU
;
Ji HE
;
Faming ZHU
Author Information
1. Blood Center of Zhejiang Province, Hangzhou, Zhejiang 310052, China. zfm00@hotmail.com.
- Publication Type:Journal Article
- MeSH:
Adult;
Female;
Humans;
Male;
Alleles;
China/ethnology*;
Gene Frequency;
Genotype;
Haplotypes/genetics*;
High-Throughput Nucleotide Sequencing/methods*;
East Asian People/genetics*;
Receptors, KIR/genetics*
- From:
Chinese Journal of Medical Genetics
2025;42(9):1039-1044
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:The haplotypes of Killer cell immunoglobulin-like receptors (KIR) can be divided into centromeric and telomeric ones. As the terminal gene at the centromeric end, KIR3DP1 plays an important role in stabilizing the haplotype structure. This study aimed to analyze the distribution of KIR3DP1 gene haplotypes among Han Chinese population in Zhejiang in order provide a basis for further analyzing the role of KIR3DP1 in the KIR haplotypes.
METHODS:A total of 166 unrelated blood donors from Zhejiang were collected (Blood donation period: March 2020 to August 2020), and genotyping was performed by next-generation sequencing based on exon capture. The copy number and allelic frequency of the KIR3DP1 gene and the distribution of centromeric haplotypes were statistically analyzed. This study was approved by the Medical Ethics Committee of Zhejiang Blood Center (Ethics No.: 2023-001).
RESULTS:The KIR3DP1 gene was positive for all individuals but with different copy numbers. Among these, 4 cases (2.4%) had only 1 copy, 156 cases (94.0%) had 2 copies, and 6 cases (3.6%) had 3 copies. A total of 10 KIR3DP1 alleles were found in the population, which could be classified into the KIR3DP1*001-L type, KIR3DP1*003-L type, and KIR3DP1 full deletion type. The KIR3DP1*003 L type allele was linked to the Cen-A01 and Cen-B01 types, and the KIR3DP1*001*L type allele and the KIR3DP1 deletion type were only present in the Cen-B02 type haplotype.
CONCLUSION:This study has derived a high-resolution distribution map of the KIR3DP1 gene in the Han population from Zhejiang, and found that the KIR3DP1 alleles showed different linkage with the centromeric haplotypes, which has provided a basis for further studying the role of KIR3DP1 in genetic immunity.
