title: Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome.
abstract: To study the genetic defect of the human androgen receptor (hAR) gene in the complete androgen insensitivity syndrome (CAIS), we amplified each of the eight exons by PCR in genomic DNA extracted from the paraffin blocks of the resected gonads. We analyzed using SSCP, and directly sequenced the abnormally shifted bands. Mutations were found in 4 cases of CAIS. Patient 1 carried a point mutation; a G to A transition in exon 7 resulted in a change from arginine to glutamine at codon 831. Patient 2 carried a point mutation; a C to T transition in exon 7 resulted in a change from arginine to stop at codon 831. Patient 3 carried a point mutation and deletion in exon 7. A point mutation was an A to G transition that caused a glutamine to be substituted for the asparagine present at codon 819. A deletion of a G at codon 820 resulted in a frameshift and consequently in the introduction of a premature stop at codon 821. Patient 4 carried a mutation in 5' splice donor site of intron 7; a G to T transition might have caused an abnormal splicing of the exon 7. All of the mutations were found in exon 7. These mutations of hAR gene might be related to the pathogenesis of CAIS.
authors.affiliation: Department of Pathology, Chonnam National University Medical School, Chonnam University Research Institute of Medical Sciences, Kwangju, Republic of Korea. cchoi@chonnam.ac.kr
authors.forename: C
authors.initials: C
authors.lastname: Choi
authors.forename: K C
authors.initials: KC
authors.lastname: Kim
authors.forename: H O
authors.initials: HO
authors.lastname: Kim
authors.forename: S H
authors.initials: SH
authors.lastname: Cho
authors.forename: J B
authors.initials: JB
authors.lastname: Lee
authors.forename: I S
authors.initials: IS
authors.lastname: Kim
authors.forename: K K
authors.initials: KK
authors.lastname: Park
authors.forename: N H
authors.initials: NH
authors.lastname: Cho
authors.forename: S W
authors.initials: SW
authors.lastname: Juhng
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000235:genetics*; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000302:isolation & purification; D017931:DNA Primers; D012734:Disorders of Sex Development / Q000235:genetics; D004591:Electrophoresis, Polyacrylamide Gel; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011944:Receptors, Androgen / Q000737:chemistry / Q000235:genetics*; D017422:Sequence Analysis, DNA; D013737:Testis / Q000737:chemistry
chemical_list: D017931:DNA Primers; D011944:Receptors, Androgen; D004247:DNA