title: [DNA mismatch repair enzyme hMSH2 genetic polymorphism in southern Chinese Han population].
abstract: OBJECTIVE
  To study hMSH2 genetic polymorphism in southern Chinese Han population.
  
  
  METHODS
  The basic materials and blood samples from 163 southern Chinese were collected. The mutations of exon 6 and exon 7 of hMSH2 gene were investigated by PCR-SSCP, followed by DNA sequencing.
  
  
  RESULTS
  Fragments of 250 bp including exon 6 and fragments of 323 bp including exon 7 of hMSH2 gene were amplified by multiple PCR. The allele frequencies of C18, A82 and B39 type mutations were 0.0184, 0.0031, 0.0031, respectively. The gene frequencies and gene type frequencies of three polymorphism sites in normal population accorded with Hardy-Weinberg equilibrium (P>0.05). The heterozygosity of C18 type mutation (0.0361) was the highest.
  
  
  CONCLUSIONS
  There were three polymorphism sites in exon 7 of hMSH2 gene in southern Chinese Han population, among which the genotype frequency of C18 type was the highest, suggesting that C18 type mutation be a useful genetic mark.
authors.affiliation: Faculty of Preventive Medicine, School of Public Health, Sun Yat-Sen University, Guangzhou, Guangdong, 510080 PR China. heyun-j@163.net
authors.forename: Yun
authors.initials: Y
authors.lastname: He
authors.forename: Zhi-xiong
authors.initials: ZX
authors.lastname: Zhuang
authors.forename: Chun-hua
authors.initials: CH
authors.lastname: He
authors.forename: Ru-qing
authors.initials: RQ
authors.lastname: Liu
mesh_terms: D044466:Asian People / Q000235:genetics; D020137:Base Pair Mismatch; D000072481:DNA Ligase ATP; D011088:DNA Ligases / Q000235:genetics; D053843:DNA Mismatch Repair / Q000235:genetics / Q000502:physiology; D045643:DNA Repair Enzymes / Q000235:genetics*; D005091:Exons / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats / Q000235:genetics; D008875:Middle Aged; D011110:Polymorphism, Genetic
chemical_list: D011088:DNA Ligases; D045643:DNA Repair Enzymes; D000072481:DNA Ligase ATP