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

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Author(s)
Chan ChoiKweon Cheon KimHee Ok KimSung Hee ChoJung Bin LeeIn Sun KimKwan Kyu ParkNam Hoon ChoSang Woo Juhng
Publication Year
2000
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.
Key words Androgen receptor gene · Mutation ·
Splice-site mutation · Androgen insensitivity syndrome
Department
Dept. of Pathology (병리학)
Publisher
School of Medicine
Citation
Archives of Gynecology and Obstetrics, Vol.263(4) : 201-205, 2000
Type
Article
ISSN
1432-0711
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/35076
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