A rapid and simple method for detection of Asn363Ser polymorphism of the human glucocorticoid receptor gene.
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%).
Majnik
Judit
J
Second Department of Medicine, Faculty of Medicine, Semmelweis University, Szentkirályi 46, H-1088 Budapest, Hungary.
Patócs
Attila
A
Balogh
Katalin
K
Tóth
Miklós
M
Rácz
Károly
K
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001216:Asparagine / Q000235:genetics*; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011965:Receptors, Glucocorticoid / Q000737:chemistry / Q000235:genetics*; D012694:Serine / Q000235:genetics*; D013997:Time Factors
D011965:Receptors, Glucocorticoid; D012694:Serine; D001216:Asparagine