A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene

Judit Majnik, A. Patócs, Katalin Balogh, Miklós Tóth, K. Rácz

Research output: Contribution to journalArticle

20 Citations (Scopus)

Abstract

Asn363Ser polymorphism of the human glucocorticoid receptor has been detected in approximately 4% of the population and it has been associated with several diseases and pathologic conditions. Here we describe a new, simple and cost-effective allele-specific PCR method for a rapid screening of this polymorphism. When compared to currently used PCR-based restriction fragment length polymorphism (RFLP) and direct DNA sequencing methods, the new allele-specific PCR method showed 100% accuracy for the detection of Asn363Asn and Asn363Ser genotypes. The feasibility of these methods were tested in 301 patients, including 47 patients with postmenopausal osteoporosis in whom the frequency of Asn363Ser polymorphism was similar to that found in control subjects (4.3% versus 4.4%).

Original languageEnglish
Pages (from-to)465-468
Number of pages4
JournalJournal of Steroid Biochemistry and Molecular Biology
Volume92
Issue number5
DOIs
Publication statusPublished - Dec 2004

Fingerprint

Glucocorticoid Receptors
Polymorphism
Genes
Polymerase Chain Reaction
Alleles
Postmenopausal Osteoporosis
DNA Sequence Analysis
Restriction Fragment Length Polymorphisms
Screening
Genotype
Costs and Cost Analysis
DNA
Population
Costs

Keywords

  • Allele-specific PCR
  • Genetic polymorphism
  • Glucocorticoid receptor

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology

Cite this

A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene. / Majnik, Judit; Patócs, A.; Balogh, Katalin; Tóth, Miklós; Rácz, K.

In: Journal of Steroid Biochemistry and Molecular Biology, Vol. 92, No. 5, 12.2004, p. 465-468.

Research output: Contribution to journalArticle

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