title: [Linkage disequilibrium analysis of -1516, -574 and 4259 single nucleotide polymorphisms in TIM-3 gene].
abstract: OBJECTIVE
  To investigate the frequencies of -1516,-574 and 4259 single nucleotide polymorphisms (SNPs) of T cells immunoglobulin mucin -3(TIM-3) gene in Hubei population and address the question whether they are in linkage disequilibrium(LD) .
  
  
  METHODS
  Genotypes and allele frequencies of TIM-3 gene were examined by allele-specific polymerase chain reaction (AS-PCR) methods in 147 healthy Hubei Han individuals. Hardy-Weinberg equilibrium and Two-point LD analyses and haplotype frequencies were evaluated with Arlequin v3.1 software.
  
  
  RESULTS
  The allele frequencies of the 3 SNPs were in agreement with Hardy-Weinberg equilibrium. Minor allelic frequencies of TIM-3 -1516G/T,-574T/G and 4259G/T were 8.5%,1.0% and 2.0%,respectively. The dominant haplotypes comprising the three loci were G-G-G(2.0%),G-G-T(88.4%), T-G-T(8.5%) and G-T-T(1.0%). LD analyses revealed that all of the coefficient of linkage disequilibrium (D') were 1.
  
  
  CONCLUSIONS
  The -1516,-574 and 4259 loci of TIM-3 gene are in complete linkage disequilibrium. Our study has provided population genetic data on TIM-3 gene in Chinese Hubei Han population and a basis for searching immune-mediated disease-related TIM-3 haplotype.
authors.affiliation: Department of Laboratory Medicine, Huazhong University of Science and Technology, Wuhan, Hubei, 430022 People's Republic of China.
authors.forename: Zhi-zhong
authors.initials: ZZ
authors.lastname: Chen
authors.forename: Lin
authors.initials: L
authors.lastname: Wang
authors.forename: Hong
authors.initials: H
authors.lastname: Li
authors.forename: Tian-pen
authors.initials: TP
authors.lastname: Cui
authors.forename: Yi-rong
authors.initials: YR
authors.lastname: Li
authors.forename: Li-hua
authors.initials: LH
authors.lastname: Hu
mesh_terms: D000328:Adult; D000483:Alleles; D001483:Base Sequence; D002681:China; D004586:Electrophoresis; D005006:Ethnicity / Q000235:genetics; D006239:Haplotypes; D000072597:Hepatitis A Virus Cellular Receptor 2; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA
chemical_list: C448908:HAVCR2 protein, human; D000072597:Hepatitis A Virus Cellular Receptor 2; D008565:Membrane Proteins