0 326

Cited 3 times in

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

DC Field Value Language
dc.contributor.author조남훈-
dc.date.accessioned2019-11-11T05:07:51Z-
dc.date.available2019-11-11T05:07:51Z-
dc.date.issued2000-
dc.identifier.issn0932-0067-
dc.identifier.urihttps://ir.ymlib.yonsei.ac.kr/handle/22282913/171635-
dc.description.abstractTo 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.-
dc.description.statementOfResponsibilityrestriction-
dc.languageEnglish-
dc.publisherSpringer Verlag-
dc.relation.isPartOfArchives of Gynecology and Obstetrics-
dc.rightsCC BY-NC-ND 2.0 KR-
dc.subject.MESHAdolescent-
dc.subject.MESHAdult-
dc.subject.MESHAndrogen-Insensitivity Syndrome/genetics*-
dc.subject.MESHBase Sequence-
dc.subject.MESHDNA/chemistry-
dc.subject.MESHDNA/isolation & purification-
dc.subject.MESHDNA Primers-
dc.subject.MESHDisorders of Sex Development/genetics-
dc.subject.MESHElectrophoresis, Polyacrylamide Gel-
dc.subject.MESHExons/genetics-
dc.subject.MESHFemale-
dc.subject.MESHFrameshift Mutation-
dc.subject.MESHHumans-
dc.subject.MESHMale-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHPoint Mutation-
dc.subject.MESHPolymerase Chain Reaction-
dc.subject.MESHPolymorphism, Single-Stranded Conformational-
dc.subject.MESHReceptors, Androgen/chemistry-
dc.subject.MESHReceptors, Androgen/genetics*-
dc.subject.MESHSequence Analysis, DNA-
dc.subject.MESHTestis/chemistry-
dc.titleAndrogen receptor gene mutation identified by PCR-SSCP and sequencing in 4 patients with complete androgen insensitivity syndrome-
dc.typeArticle-
dc.contributor.collegeCollege of Medicine (의과대학)-
dc.contributor.departmentDept. of Pathology (병리학교실)-
dc.contributor.googleauthorC. Choi-
dc.contributor.googleauthorK. C. Kim-
dc.contributor.googleauthorH. O. Kim-
dc.contributor.googleauthorS. H. Cho-
dc.contributor.googleauthorJ. B. Lee-
dc.contributor.googleauthorI. S. Kim-
dc.contributor.googleauthorK. K. Park-
dc.contributor.googleauthorN. H. Cho-
dc.contributor.googleauthorS. W. Juhng-
dc.identifier.doi10.1007/s004040050284-
dc.contributor.localIdA03812-
dc.relation.journalcodeJ02847-
dc.identifier.eissn1432-0711-
dc.identifier.pmid10834333-
dc.identifier.urlhttps://link.springer.com/article/10.1007/s004040050284-
dc.subject.keywordAndrogen receptor gene-
dc.subject.keywordMutation-
dc.subject.keywordSplice-site mutation-
dc.subject.keywordAndrogen insensitivity syndrome-
dc.contributor.alternativeNameCho, Nam Hoon-
dc.contributor.affiliatedAuthor조남훈-
dc.citation.volume263-
dc.citation.number4-
dc.citation.startPage201-
dc.citation.endPage205-
dc.identifier.bibliographicCitationArchives of Gynecology and Obstetrics, Vol.263(4) : 201-205, 2000-
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers

qrcode

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