title: [Mutational analysis in a family with X-linked spondyloepiphyseal dysplasia tarda].
abstract: OBJECTIVE
  To detect the mutation of the SEDL gene in an X-linked spondyloepiphyseal dysplasia tarda (SEDL) family.
  
  
  METHODS
  Two patients and three females of the X-SEDL family were detected using reverse transcriptase PCR (RT-PCR) and sequence analysis.
  
  
  RESULTS
  A G209A mutation of SEDL gene was detected in the cDNA sequences of the patients, which was confirmed by sequence analysis of the exon 4 of the SEDL gene. The daughter of the proband was a carrier of the mutation.
  
  
  CONCLUSIONS
  Since the SEDL gene is relatively small, sequence analysis of cDNA of the SEDL gene was possible after extraction of total RNA followed by RT-PCR. Mutations in the open reading frame can be detected y by cDNA sequencing. It was relatively more rapid and direct than amplifying and detecting the exons one by one.
authors.affiliation: Prenatal Diagnosis Center, the Affiliated Drumtower Hospital, Nanjing University Medical School, Nanjing, Jiangsu, 210008 People's Republic of China.
authors.forename: Hai-yan
authors.initials: HY
authors.lastname: Zhu
authors.forename: Jie
authors.initials: J
authors.lastname: Li
authors.forename: Rui-fang
authors.initials: RF
authors.lastname: Zhu
authors.forename: Xing
authors.initials: X
authors.lastname: Wu
authors.forename: Hong-lei
authors.initials: HL
authors.lastname: Duan
authors.forename: Ying
authors.initials: Y
authors.lastname: Yang
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhang
authors.forename: Yali
authors.initials: Y
authors.lastname: Hu
mesh_terms: D041321:Chromosomes, Human, X; D004252:DNA Mutational Analysis; D018076:DNA, Complementary / Q000032:analysis; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics*; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010009:Osteochondrodysplasias / Q000235:genetics*; D010375:Pedigree; D017384:Sequence Deletion
chemical_list: D018076:DNA, Complementary