title: [Mutation analysis of the TRAPPC2 gene in a Chinese family with X-linked spondyloepiphyseal dysplasia tarda].
abstract: OBJECTIVE
  To identify potential mutation of TRAPPC2 gene in a Chinese family affected with X-linked spondyloepiphyseal dysplasia tarda (X-SEDL), and explore its underlying molecular mechanism.
  
  
  METHODS
  Peripheral blood samples were collected from 32 members of the family and 50 healthy adults to extract genomic DNA. DNA sequences of exons 3 to 6 and their exon/intron boundaries were amplified with PCR amplification. Direct bi-directional sequencing analysis was performed on the PCR products. The sequences were aligned to the reference sequences from the GenBank to determine mutation site and type.
  
  
  RESULTS
  A nucleotide substitution of the splice-donor in TRAPPC2 intron 3, c.93+5G>A, was detected in the proband, but no sequence change was detected in TRAPPC2 exons 3 to 6. All of the 6 male patients and 8 female carriers from the family were detected to have carried this mutation. The same mutation was not found in the remaining 18 family members with a normal phenotype and 50 healthy controls.
  
  
  CONCLUSIONS
  We have detected a c.93+5G>A mutation in the TRAPPC2 gene in a Chinese family affected with X-SEDL. Our results have expanded the spectrum of TRAPPC2 mutations and is helpful for presymptomatic and prenatal diagnoses of this disease.
authors.affiliation: Department of Laboratory Medicine, Affiliated People's Hospital of Guiyang Medical College, Guizhou Provincial People's Hospital, Guiyang, Guizhou 550002, P. R. China. hsw713@sina.com.
authors.forename: Xian
authors.initials: X
authors.lastname: Wu
authors.forename: Kaixian
authors.initials: K
authors.lastname: Deng
authors.forename: Chunjiao
authors.initials: C
authors.lastname: Wang
authors.forename: Guifang
authors.initials: G
authors.lastname: Li
authors.forename: Jing
authors.initials: J
authors.lastname: Lin
authors.forename: Rongpin
authors.initials: R
authors.lastname: Wang
authors.forename: Haili
authors.initials: H
authors.lastname: Wu
authors.forename: Shengwen
authors.initials: S
authors.lastname: Huang
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002648:Child; D002681:China; D004252:DNA Mutational Analysis; D005091:Exons; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D006801:Humans; D007438:Introns; D008297:Male; D026901:Membrane Transport Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D026901:Membrane Transport Proteins; C120759:TRAPPC2 protein, human; D014157:Transcription Factors