title: [Analysis of AR gene mutation in a family affected with complete androgen insensitivity syndrome using long chain RT-PCR].
abstract: OBJECTIVE
  To identify potential mutation of androgen receptor (AR) gene in a patient with complete androgen insensitivity syndrome (CAIS) and his family members.
  
  
  METHODS
  Total RNA and genomic DNA were extracted from the peripheral blood samples derived from the proband and her family members. Sequences of 7 exons of the AR gene were amplified with reverse transcriptase PCR(RT-PCR) and subjected to direct sequencing. Suspected mutation was also analyzed with PCR-restriction fragment length polymorphism (PCR-RFLP) and direct sequencing.
  
  
  RESULTS
  DNA sequencing has revealed a nucleotide change (2880A>G) in the pedigree, which resulted in a missense mutation (R840H).
  
  
  CONCLUSIONS
  A prenatal diagnostic method was established for detecting mutation of the AR gene in the pedigree. Long chain RT-PCR was first used for the detection of AR gene mutations.
authors.affiliation: PLA Center for Laboratory Medicine, Fuzhou General Hospital, Fuzhou, Fujian 350025, China. tuxdmed@126.com.
authors.forename: Xiao
authors.initials: X
authors.lastname: Zhang
authors.forename: Jian
authors.initials: J
authors.lastname: Zeng
authors.forename: Yanhong
authors.initials: Y
authors.lastname: Lin
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Tu
mesh_terms: D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis / Q000379:methods; D005192:Family Health; D005260:Female; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011944:Receptors, Androgen / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*
chemical_list: D011944:Receptors, Androgen