title: [Genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population].
abstract: In order to study the genetic polymorphisms of nucleotide repair gene hMTH1 in southern Chinese Han population, the polymorphisms of the gene's promoter and its five exons among peripheral blood lymphocytes of 172 Chinese Han people were analyzed with polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) and DNA sequencing. The sequences of the promoter and exon 1 of hMTH1 gene were conserved. A T to C polymorphism was detected at the 73th base in exon 2. The genotype frequencies of TT and TC were 93.02% and 6.98%, respectively. The allelic frequencies of T and C were 96.51% and 3.49%, respectively. A T to C polymorphism was detected at codon 45 in exon 3, which was first reported. The genotype frequencies of TT and TC were 95.35% and 4.65%, respectively. The allelic frequencies of T and C were 97.67% and 2.33%, respectively. A G to A polymorphism was detected at codon 83 in exon 4. The genotype frequencies of GG and GA were 89.53% and 10.47%, respectively. The allelic frequencies of G and A were 94.77% and 5.23%, respectively. A C to T polymorphism was detected at codon 119 in exon 5. The genotype frequencies of CC and CT were 95.93% and 4.07%, respectively. The allelic frequencies of C and T were 97.97% and 2.03%, respectively.
authors.affiliation: Cancer Institute, Cancer Center, Sun Yat-sen University, Guangzhou 510060, China. jianggulf@hotmail.com
authors.forename: Gao-Feng
authors.initials: GF
authors.lastname: Jiang
authors.forename: Zhi-Xiong
authors.initials: ZX
authors.lastname: Zhuang
authors.forename: Qi-Zhan
authors.initials: QZ
authors.lastname: Liu
authors.forename: Lei
authors.initials: L
authors.lastname: Xu
authors.forename: Yun
authors.initials: Y
authors.lastname: He
authors.forename: Liu-Tao
authors.initials: LT
authors.lastname: Du
mesh_terms: D044466:Asian People / Q000235:genetics*; D002681:China / Q000208:ethnology; D045643:DNA Repair Enzymes / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D010744:Phosphoric Monoester Hydrolases; C078207:8-oxodGTPase; D045643:DNA Repair Enzymes