title: [Genetic analysis of a novel mutation resulting in autosomal dominant osteopetrosis II].
abstract: OBJECTIVE
  To analyze potential mutation of chloride channel 7(CLCN7) gene in a patient with autosomal dominant osteopetrosis II (ADO II).
  
  
  METHODS
  Genomic DNA was extracted from peripheral blood samples from the patient and 100 healthy subjects. The DNA was used as template of polymerase chain reaction (PCR) to amplify the exons of CLCN7. Then the PCR products were sequenced to detect the mutation.
  
  
  RESULTS
  A novel heterozygous deletional mutation (c.2460delA) was detected in exon 25 of the CLCN7 gene in the patient, which has resulted in substitution of Gly residue for Arg at position 784 of the CLCN7 protein and caused frame shift of the following 28 amino acids (Arg784GlyfsX29). The same mutation was not found in the healthy subjects.
  
  
  CONCLUSIONS
  The ADO II in the patient probably results from a Arg784GlyfsX29 mutation in the CLCN7 gene.
authors.affiliation: State Key Laboratory of Trauma, Burns and Combined Injury, Center of Bone Metabolism and Repair, Trauma Center, Institute of Surgery Research, Daping Hospital, Third Military Medical University, Chongqing 400042, P.R.China. linchen70@163.com.
authors.forename: Xiaogang
authors.initials: X
authors.lastname: Li
authors.forename: Nan
authors.initials: N
authors.lastname: Su
authors.forename: Can
authors.initials: C
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Yang
authors.forename: Xiaolan
authors.initials: X
authors.lastname: Du
authors.forename: Lin
authors.initials: L
authors.lastname: Chen
mesh_terms: D001483:Base Sequence; D018118:Chloride Channels / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010022:Osteopetrosis / Q000000981:diagnostic imaging / Q000235:genetics*; D011859:Radiography; D055815:Young Adult
chemical_list: C097540:CLCN7 protein, human; D018118:Chloride Channels