Nicht-radioaktive SSCP zum Nachweis von Androgenrezeptor Genmutationen--Ein Diagnostikum bei Androgenresistenz.

O. Hiort; A. Wodtke; D. Struve; G. H. Sinnecker

Nicht-radioaktive SSCP zum Nachweis von Androgenrezeptor Genmutationen--Ein Diagnostikum bei Androgenresistenz.

Translated title of the contribution: Non-radioactive SSCP for the detection of androgen receptor gene mutation--a diagnostic tool for androgen resistance

O. Hiort^*, A. Wodtke, D. Struve, G. H. Sinnecker

^*Corresponding author for this work

Department of Pediatric and Adolescent Medicine

Abstract

Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. Characterization of these mutations with single strand conformation polymorphism analysis utilizing radioactive PCR can serve as a diagnostic tool for molecular subclassification of these syndromes. It is the basis for genetic counseling and for therapeutic decisions. Here we report an improved non-radioactive single strand polymorphism analysis for rapid detection of androgen receptor gene mutations in affected individuals. In addition to previously reported mutations, 9 patients with clinical features of androgen resistance were studied. While one insertion mutation was detected, in all other patients different point mutations initiating amino acid substitutions were characterized.

Translated title of the contribution	Non-radioactive SSCP for the detection of androgen receptor gene mutation--a diagnostic tool for androgen resistance
Original language	German
Journal	Verhandlungen der Deutschen Gesellschaft für Pathologie
Volume	78
Pages (from-to)	200-203
Number of pages	4
ISSN	0070-4113
Publication status	Published - 1994

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This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being
SDG 5 Gender Equality
SDG 10 Reduced Inequalities

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Academic Focus: Center for Brain, Behavior and Metabolism (CBBM)

Cite this

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title = "Nicht-radioaktive SSCP zum Nachweis von Androgenrezeptor Genmutationen--Ein Diagnostikum bei Androgenresistenz.",

abstract = "Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. Characterization of these mutations with single strand conformation polymorphism analysis utilizing radioactive PCR can serve as a diagnostic tool for molecular subclassification of these syndromes. It is the basis for genetic counseling and for therapeutic decisions. Here we report an improved non-radioactive single strand polymorphism analysis for rapid detection of androgen receptor gene mutations in affected individuals. In addition to previously reported mutations, 9 patients with clinical features of androgen resistance were studied. While one insertion mutation was detected, in all other patients different point mutations initiating amino acid substitutions were characterized.",

author = "O. Hiort and A. Wodtke and D. Struve and Sinnecker, \{G. H.\}",

note = "Copyright: This record is sourced from MEDLINE{\textregistered}/PubMed{\textregistered}, a database of the U.S. National Library of Medicine",

year = "1994",

language = "Deutsch",

volume = "78",

pages = "200--203",

journal = "Verhandlungen der Deutschen Gesellschaft f{\"u}r Pathologie",

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TY - JOUR

T1 - Nicht-radioaktive SSCP zum Nachweis von Androgenrezeptor Genmutationen--Ein Diagnostikum bei Androgenresistenz.

AU - Hiort, O.

AU - Wodtke, A.

AU - Struve, D.

AU - Sinnecker, G. H.

N1 - Copyright: This record is sourced from MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

PY - 1994

Y1 - 1994

N2 - Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. Characterization of these mutations with single strand conformation polymorphism analysis utilizing radioactive PCR can serve as a diagnostic tool for molecular subclassification of these syndromes. It is the basis for genetic counseling and for therapeutic decisions. Here we report an improved non-radioactive single strand polymorphism analysis for rapid detection of androgen receptor gene mutations in affected individuals. In addition to previously reported mutations, 9 patients with clinical features of androgen resistance were studied. While one insertion mutation was detected, in all other patients different point mutations initiating amino acid substitutions were characterized.

AB - Point mutations in the androgen receptor gene cause androgen insensitivity syndromes, clinically characterized by masculinization defects in karyotypic males due to endorgan resistance to androgenic steroids. Characterization of these mutations with single strand conformation polymorphism analysis utilizing radioactive PCR can serve as a diagnostic tool for molecular subclassification of these syndromes. It is the basis for genetic counseling and for therapeutic decisions. Here we report an improved non-radioactive single strand polymorphism analysis for rapid detection of androgen receptor gene mutations in affected individuals. In addition to previously reported mutations, 9 patients with clinical features of androgen resistance were studied. While one insertion mutation was detected, in all other patients different point mutations initiating amino acid substitutions were characterized.

UR - https://www.scopus.com/pages/publications/0028695266

M3 - Zeitschriftenaufsätze

C2 - 7533986

AN - SCOPUS:0028695266

SN - 0070-4113

VL - 78

SP - 200

EP - 203

JO - Verhandlungen der Deutschen Gesellschaft für Pathologie

JF - Verhandlungen der Deutschen Gesellschaft für Pathologie

ER -

Nicht-radioaktive SSCP zum Nachweis von Androgenrezeptor Genmutationen--Ein Diagnostikum bei Androgenresistenz.

Abstract

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