title: Distribution of killer cell immunoglobulin-like receptor genes and 2DS4 alleles in the Chinese Han population.
abstract: Killer cell immunoglobulinlike receptors (KIRs) are a diverse family of receptors on natural killer cells. The KIR2DS4-deleted variant differs from the normal KIR2DS4 sequence by a 22-bp deletion in exon 5, which causes a frame shift, yielding a truncated KIR2DS4 protein with loss of the transmembrane and cytoplasmic domains of the full-length KIR2DS4 protein. A sequence-based testing and TOPO TA cloning system identifying and distinguishing alleles of the KIR2DS4 gene was established. The method was applied to 150 Chinese Han individuals: 75 patients who received T-depleted hematopoietic stem cells transplantation and their unrelated donors, establishing frequencies of 2DS4 allele and KIR gene within the local population. A majority (139) of the 150 samples (92.7%) were positive for KIR2DS4. The ratio of deleted to nondeleted versions of KIR2DS4 was approximately 1:2. Three KIR2DS4 novel alleles were identified. Forty-four percent individuals carried two group A haplotypes. The 17 KIR gene loci were found in 21.3%-100% in the population. Our findings suggest that the Chinese Han population is distinct in KIR gene frequencies and 2DS4 allele frequencies in comparison with some other populations.
authors.affiliation: The Institute of Hematology, Key Laboratory of Thrombosis and Hemostasis, The First Affiliated Hospital of Soochow University, Suzhou, Jiangsu, People's Republic of China.
authors.forename: Xiaojing
authors.initials: X
authors.lastname: Bao
authors.forename: LiHua
authors.initials: L
authors.lastname: Hou
authors.forename: Aining
authors.initials: A
authors.lastname: Sun
authors.forename: Qiaocheng
authors.initials: Q
authors.lastname: Qiu
authors.forename: Xiaoni
authors.initials: X
authors.lastname: Yuan
authors.forename: Minghua
authors.initials: M
authors.lastname: Chen
authors.forename: Zixing
authors.initials: Z
authors.lastname: Chen
authors.forename: Jun
authors.initials: J
authors.lastname: He
mesh_terms: D002681:China; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods; D006239:Haplotypes; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D044382:Population Groups; D054340:Receptors, KIR / Q000235:genetics*; D017384:Sequence Deletion; D014019:Tissue Donors
chemical_list: C473953:KIR2DS4 protein, human; D054340:Receptors, KIR