title: [SRY gene analysis for a case with sex reversal syndrome].
abstract: OBJECTIVE
  To investigate the molecular mechanism of sex reversal in a 46,XY female patient.
  
  
  METHODS
  Clinical data was collected. Peripheral blood lymphocytes were cultured for G-banding chromosomal analysis and DNA extraction. Sex-determining region of Y-chromosome (SRY) gene was analyzed with polymerase chain reaction (PCR) and DNA sequencing .
  
  
  RESULTS
  Although the patient has a female appearance, he has a karyotype of 46,XY. The SRY gene can be detected in  all samples. The 6th base of SRY gene coding region was deleted, resulting in a frameshifting mutation and premature termination of protein translation.
  
  
  CONCLUSIONS
  The sex reversal of the patient is probably due to abnormal embryonic development caused by the SRY gene mutation.
authors.affiliation: Department of Clinical Laboratory, Affiliated Hospital of North Sichuan Medical College, Nanchong, Sichuan, People's Republic of China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Cai
authors.forename: Zhi-ning
authors.initials: ZN
authors.lastname: Yang
authors.forename: Ming-hui
authors.initials: MH
authors.lastname: Yang
authors.forename: Su-hua
authors.initials: SH
authors.lastname: Liang
authors.forename: Zhong
authors.initials: Z
authors.lastname: Tang
mesh_terms: D000293:Adolescent; D000595:Amino Acid Sequence; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D024282:Genes, sry; D006801:Humans; D008969:Molecular Sequence Data