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Timofeeva, M.* ; Jäger, B.* ; Rosenberger, A.* ; Sauter, W. ; Wichmann, H.-E. ; Bickeböller, H.* ; Risch, A.*

A multiplex real-time PCR method for detection of GSTM1 and GSTT1 copy numbers.

Clin. Biochem. 42, 500-509 (2009)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
Objectives: Deletion polymorphisms of Glutathione-S-transferase (GST) M I and T I are considered risk factors for various diseases. However, most previous studies only distinguished "null" and "non-null" genotypes. Our aim was to develop a reliable. high-throughput GSTM1/T1 genotyping method able to determine allele copy numbers. Design and methods: We developed a multiplex real time PCR method to distinguish between heterozygous (1/0) and homozygous (1/1) GSTM1 and GSTT1 genotypes. The principle of relative quantification was applied and an expectation-maximisation (EM) algorithm was developed to assign one of 3 possible genotypes: 1/1, 1/0 or 0/0 for each of the two genes. Results: 1320 Caucasians were genotyped using the newly developed method. The observed genotype distributions did not deviate from the expected and were in Hardly-Weinberg equilibrium. GSTM1 duplication was detected in one sample. Conclusion: This new semiquantitative genotyping method is a sensitive and promising tool for large-scale molecular epidemiological and clinical studies.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Glutathione-S-transferase M1; Glutathione-S-transferase T1; Real time PCR quantification; Copy number polymorphism; glutathione-s-transferase; polymerase-chain-reaction; trans-stilbene oxide; lung-cancer risk; genetic polymorphisms; quantitative pcr; enzyme-activity; theta gstt1; genotype; smoking
ISSN (print) / ISBN 0009-9120
e-ISSN 0009-9120
Zeitschrift Clinical Biochemistry
Quellenangaben Band: 42, Heft: 6, Seiten: 500-509 Artikelnummer: , Supplement: ,
Verlag Elsevier
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Epidemiology (EPI)