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《Hereditas(Beijing)》 2005-01
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Genetic Polymorphisms of Nucleotide Repair GenehMTH1 in Southern Chinese Han Population

JIANG Gao-Feng~(1, 2), ZHUANG Zhi-Xiong~2, LIU Qi-Zhan~3, XU Lei~4, HE Yun~4, DU Liu-Tao~4(1.Research Department, Cancer Center, Sun Yat-sen University, Guangzhou 510060, China; 2. Shenzhen Center for DiseaseControl and Prevention, Shenzhen 518020, China; 3. Institute of Toxicology, Nanjing Medical University,Nanjing 210029, China; 4. Faculty of Preventive Medicine, School of Public Health, Sun Yat-sen University, Guangzhou 510080, China)  
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.
【Fund】: "973"国家重点基础研究发展规划项目(2002CB512904)~~
【CateGory Index】: Q987
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