0 80

Cited 3 times in

Androgen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome

Authors
 C. Choi  ;  K. C. Kim  ;  H. O. Kim  ;  S. H. Cho  ;  J. B. Lee  ;  I. S. Kim  ;  K. K. Park  ;  N. H. Cho  ;  S. W. Juhng 
Citation
 Archives of Gynecology and Obstetrics, Vol.263(4) : 201-205, 2000 
Journal Title
 Archives of Gynecology and Obstetrics 
ISSN
 0932-0067 
Issue Date
2000
MeSH
Adolescent ; Adult ; Androgen-Insensitivity Syndrome/genetics* ; Base Sequence ; DNA/chemistry ; DNA/isolation & purification ; DNA Primers ; Disorders of Sex Development/genetics ; Electrophoresis, Polyacrylamide Gel ; Exons/genetics ; Female ; Frameshift Mutation ; Humans ; Male ; Molecular Sequence Data ; Point Mutation ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; Receptors, Androgen/chemistry ; Receptors, Androgen/genetics* ; Sequence Analysis, DNA ; Testis/chemistry
Keywords
Androgen receptor gene ; Mutation ; Splice-site mutation ; 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.
Full Text
https://link.springer.com/article/10.1007/s004040050284
DOI
10.1007/s004040050284
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
Yonsei Authors
Cho, Nam Hoon(조남훈) ORCID logo https://orcid.org/0000-0002-0045-6441
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/171635
사서에게 알리기
  feedback

qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse

Links