title: [Genetic polymorphisms of SNP loci in the 5' and 3' region of TPH2 gene in Northern Chinese Han population].
abstract: OBJECTIVE
  To investigate the genetic polymorphism in the 5' and 3' region of TPH2 gene of Northern Chinese Han population and to explore its application value in forensic medicine.
  
  
  METHODS
  The sequence variants and the genetic polymorphisms of 6 SNP loci (rs4570625, rs11178997, rs11178998, rs41317118, rs17110747 and rs41317114) within a 905 bp 5' flanking region and a 1,104bp 3' flanking region of TPH2 gene were analyzed by DNA sequencing in a total of 244 unrelated healthy individuals in Northern Chinese Han population. The statistical analysis was carried out by Haploview v4.2 software.
  
  
  RESULTS
  The genotypic distributions of the 6 SNP loci in the TPH2 gene were in accordance with Hardy-Weinberg equilibrium. One C/T variant in 92922 site was found. There was a high linkage disequilibrium among the 3 SNP loci (rs4570625, rs11178997 and rs11178998) in the 5' region and the 3 SNP loci (rs41317118, rs17110747 and rs41317114) in the 3' region of TPH2 gene, respectively. The parameters of population genetics of 6 SNP loci were obtained.
  
  
  CONCLUSIONS
  There are great polymorphisms in the 5' and 3' region of TPH2 gene in Northern Chinese Han population, which could be used as genetic indexes for association analysis of the related diseases, as well as for forensic individual identification and paternity testing.
authors: School of Forensic Medicine, China Medical University, Shenyang, China.
authors: Xiao-Ming
authors: XM
authors: Xu
authors: Mei
authors: M
authors: Ding
authors: Hao
authors: H
authors: Pang
authors: Jia-Xin
authors: JX
authors: Xing
authors: Jin-Feng
authors: JF
authors: Xuan
authors: Bao-Jie
authors: BJ
authors: Wang
mesh_terms: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D002681:China / Q000208:ethnology; D053803:Forensic Genetics; D005787:Gene Frequency; D005828:Genetics, Population; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium / Q000235:genetics; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D014365:Tryptophan Hydroxylase / Q000235:genetics*
chemical_list: D020413:3' Untranslated Regions; D020121:5' Untranslated Regions; C494784:TPH2 protein, human; D014365:Tryptophan Hydroxylase