Automated detection of single nucleotide polymorphism in beta-2 adrenergic receptor gene using LCx(R).
Beta-2 adrenergic receptor (B2AR) agonists are the most widely prescribed rescue agents used in the treatment of asthma. Recent studies have indicated a relationship between a polymorphism at codon 16 of the B2AR gene, and the response to recurrent beta-agonist therapy. The B2AR polymorphism of interest involves a single nucleotide change from A to G, resulting in an amino acid change from Arginine (Arg) to Glycine (Gly). Clinical efforts to further investigate this relationship require an accurate, reliable and inexpensive method for detecting the polymorphism. In this study, we report an LCx(R) assay for the detection of a single nucleotide polymorphism at codon 16 of the beta-2 adrenergic receptor. This assay is capable of detecting patients harboring any of the three possible genotypes at this locus, namely, homozygous wild type, homozygous variant or heterozygous individuals with a single genomic DNA sample of 25-500 ng. It requires minimum hands-on time with automated detection. The assay would be suitable for use in research labs for screening of a large number of samples. We believe that this type of assay will facilitate research and clinical investigations in elucidating the association of SNPs with disease states, diagnosis, prognosis and treatment.
Yu
H
H
Department 9NA, AP 20, Abbott Diagnostic Division, Abbott Laboratories, 100 Abbott Park Road, Abbott Park, IL 60064, USA. judy.yu@add.ssw.abbott.com
Merchant
B
B
Scheffel
C
C
Yandava
C
C
Drazen
J M
JM
Huff
J
J
D000318:Adrenergic beta-Agonists / Q000627:therapeutic use; D001249:Asthma / Q000188:drug therapy; D003001:Cloning, Molecular / Q000379:methods; D015342:DNA Probes / Q000032:analysis*; D005838:Genotype; D006801:Humans; D009154:Mutation / Q000235:genetics; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011943:Receptors, Adrenergic, beta / Q000032:analysis* / Q000235:genetics*; D015203:Reproducibility of Results; D017422:Sequence Analysis, DNA / Q000379:methods*
D000318:Adrenergic beta-Agonists; D015342:DNA Probes; D011943:Receptors, Adrenergic, beta