当前位置： SCI文献检索 > CLINICAL BIOCHEMISTRY期刊下所有文献 > Application of denaturing gradient gel electrophoresis (DGGE) to screen for mutations of the human glucocorticoid receptor alpha gene (hGRalpha).

Application of denaturing gradient gel electrophoresis (DGGE) to screen for mutations of the human glucocorticoid receptor alpha gene (hGRalpha).

Abstract：

OBJECTIVES:In a previous publication, we had presented a sensitive method to detect mutations of the segment of the human glucocorticoid receptor alpha (hGRalpha) gene encoding the ligand binding domain (LBD) and part of the DNA binding domain (DBD) of hGRalpha, as several types of glucocorticoid resistance syndromes have been correlated with mutations in the respective nucleotide sequences. However, mutations affecting various regions covering the whole length of hGRalpha are increasingly reported in a variety of disease states. We now present an expanded screening methodology to detect mutations covering the whole length of hGRalpha. DESIGN AND METHODS:We developed a sensitive, simple screening PCR-DGGE method to detect mutations in the aminoterminal domain and DNA-binding domain of the hGRalpha. Wild type hGRalpha cDNA and mutant samples were included in the analysis to ensure the accuracy and sensitivity of the method. RESULTS:The PCR-DGGE method identified the mutant samples and discriminated them from wild type hGRalpha. CONCLUSIONS:The method described is accurate, sensitive, simple, cheap and fulfills the critera for a screening method which will be useful in delineating possible involvement of hGRalpha mutations in the aetiopathology of diseases correlated to derangements of glucocorticoid action.

journal_name

Clin Biochem

journal_title

Clinical biochemistry

authors

Tsolakidou AF,Coulocheri SA,Sekeris CE,Moutsatsou P

doi

10.1016/s0009-9120(03)00027-4

subject

Has Abstract

pub_date

2003-06-01 00:00:00

pages

305-11

issue

4

eissn

0009-9120

issn

1873-2933

pii

S0009912003000274

journal_volume

36

pub_type

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