title: [Single nucleotide polymorphisms and point mutations of ataxia telangiectasia mutated gene in Chinese of Han ethnicity].
abstract: OBJECTIVE
  To explore the single nucleotide polymorphisms (SNPs) and point mutations of ataxia telangiectasia mutated (ATM) gene in Chinese of Han ethnicity.
  
  
  METHODS
  The target fragments of the exon 39, exon 61 and exon 63 of ATM gene were first amplified using PCR technique, then screened for the SNPs and point mutations using single strand conformation polymorphism (SSCP) technique, finally the representative bands were sequenced for the verification of the new single nucleotide polymorphisms and point mutations using the automatic DNA sequencing technique.
  
  
  RESULTS
  Six new SNPs were found in the exon 39, intron 61 and intron 63 of ATM gene. They are respectively the A/T polymorphisms at nucleotide 5689 and 5691 in exon 39, the T/G polymorphisms at nucleotide +69 and +99, the A/G polymorphism at nucleotide +94 in intron 61, the G/C polymorphism at nucleotide +17 in intron 63. Five new point mutations were found in the exon 61, intron 62 and exon 63 of ATM gene. They are respectively the T/G transversion at nucleotide 8618 in exon 61, the T/G transversion at nucleotide -13 in intron 62, the T/G transversion at nucleotide 8793, the G/A transitions at nucleotide 8816 and 8848 in exon 63. The known three SNPs, the G/A polymorphism at nucleotide 5557 in exon 39, the T/C polymorphism at nucleotide +104 in intron 61 and the T/C polymorphism at nucleotide -55 in intron 62, were verified in Chinese of Han ethnicity.
  
  
  CONCLUSIONS
  There are great differences in the SNPs of ATM gene between Chinese of Han ethnicity and Caucasian.
authors.affiliation: Department of Epidemiology, School of Public Health, Zhongshan Hospital, Fudan University, Shanghai, 200032 P. R. China.
authors.forename: Hong-wei
authors.initials: HW
authors.lastname: Tang
authors.forename: Jian-chao
authors.initials: JC
authors.lastname: Bian
authors.forename: Feng
authors.initials: F
authors.lastname: Jiang
authors.forename: Qiang
authors.initials: Q
authors.lastname: Shen
authors.forename: Qian-xi
authors.initials: QX
authors.lastname: Zhu
authors.forename: Hong-wei
authors.initials: HW
authors.lastname: Zhang
authors.forename: Yi
authors.initials: Y
authors.lastname: Wu
mesh_terms: D044466:Asian People / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000235:genetics*; D064007:Ataxia Telangiectasia Mutated Proteins; D018797:Cell Cycle Proteins / Q000235:genetics*; D002681:China / Q000208:ethnology; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics; D017354:Point Mutation; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017422:Sequence Analysis, DNA; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D044465:White People
chemical_list: D018797:Cell Cycle Proteins; D004268:DNA-Binding Proteins; D025521:Tumor Suppressor Proteins; C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins; D017346:Protein Serine-Threonine Kinases