Rapid genotyping of the human renin (REN) gene by the LightCycler® instrument: Identification of unexpected nucleotide substitutions within the selected hybridization probe area

Disease Markers

Volumn 29, Issue 5, 2010, Pages 243-249

  Wee, Line ^a   Vefring, Hege ^a   Jonsson, Grete ^a   Jugessur, Astanand ^b,c   Lie, Rolv Terje ^d  

^a STAVANGER UNIVERSITY HOSPITAL   (Norway)

^b NORWEGIAN INSTITUTE OF PUBLIC HEALTH   (Norway)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

^d UNIVERSITY OF BERGEN   (Norway)

Author keywords

LightCycler; Preeclampsia; real time PCR; renin

Indexed keywords

NUCLEOTIDE; RENIN;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; DISEASE PREDISPOSITION; FATHER; FEMALE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HUMAN; HYBRIDIZATION; MAJOR CLINICAL STUDY; MEDICAL INSTRUMENTATION; MELTING POINT; MOTHER; NUCLEOTIDE SEQUENCE; PREECLAMPSIA; PREGNANCY; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REPRODUCIBILITY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 79951536719     PISSN: 02780240     EISSN: None     Source Type: Journal    
DOI: 10.3233/DMA-2010-0754     Document Type: Article

References (28)

1. C.W. Redman and I.L. Sargent, Latest advances in understanding preeclampsia, Science 308 (2005), 1592-1594. (Pubitemid 40807500)
2. R. Arngrimsson, Epigenetics of hypertension in pregnancy, Nature Genetics 37 (2005), 460-461. (Pubitemid 40617271)
3. G.A. Dekker and B.M. Sibai, Etiology and pathogenesis of preeclampsia: Current concepts, American Journal of Obstetrics and Gynecology 179 (1998), 1359-1375. (Pubitemid 28533800)
4. P. Parham, NK cells and trophoblasts: partners in pregnancy, Journal of Experimental Medicine 200 (2004), 951-955. (Pubitemid 39431120)
5. J.M. Roberts and D.W. Cooper, Pathogenesis and genetics of pre-eclampsia, Lancet 357 (2001), 53-56. (Pubitemid 32056505)
6. A.M.A. Lachmeijer, G.A. dekker, G. Pals, J.G. Aarnoudse, L.P. ten Kate and R. Arngrimsson, searching for preeclampsia genes: the current position, European Journal of Obstetrics and Gynecology an Reproductive Biology 105 (2002), 94-113.
7. E. Nilsson, H.S. Ros, S. Cnattingius and P. Lichtenstein, The importance of genetic and environmental effects for pre-eclampsia and gestational hypertension: a family study, BJOG: an International Journal of Obstetrics and Gynaecology 111 (2004), 200-206. (Pubitemid 38299582)
8. R. Skjærven, L.J. Vatten, A.J. Wilcox, T.Rønning, L.M. Ir-gens and R.T. Lie, Recurrence of pre-eclampsia across generations: exploring fetal and maternal genetic components in a population based cohort, British Medical Journal 331 (2005), 877.
9. C. Li, R. Ansari, Z. Yu and D. Shah, Definitive molecular evidence of renin-angiotensi system in human uterine decidual cells, Hypertension 36 (2000), 159-164. (Pubitemid 30626982)
10. E. Takimoto, J.Ishida, F. Sugiyama, H. Horiguchi, K. Murakami and A. Fukamizu, Hypertension induced in pregnant mice by placental renin and maternal angiotensinogen, Science 274 (1996), 995-997.
11. H. Vefring, R.T. Lie, R. Ødegrd, M.A. Mansoor and S.T. Nilsen, Maternal and fetal variants of genetic thrombophilias and the risk of preeclampsia, Epidemiology 15 (2004), 317-322. (Pubitemid 40416951)
12. C.D. Mamotte, Genotyping of single nucleotide substitutions, Clinical Biochemist Reviews 27 (2006), 63-75.
13. P.S. Bernard, G.H. Pritham and C.T. Wittwer, Color multiplexing hybridization probes using the apolipoprotein E locus as a model system for genotyping, Analytical Biochemistry 278 (1999), 221-228. (Pubitemid 29430666)
14. C.T. Wittwer, K.M. Ririe, R.V. Andrew, D.A. David, R.A. Gundry and U.J. Balis UJ, The LightCyclerTM: A microvol-ume multisample fluorimeter with rapid temperature control, BioTechniques 22 (1997), 176-181. (Pubitemid 27036431)
15. CLASP (Collaborative Low-dose Aspirin Study in Pregnancy) Collaborative Group, CLASP: a randomized trial of low-dose aspirin for the prevention and treatment of preeclampsia among 9364 pregnant women, Lancet 343 (1994), 893-901.
16. H.K. Vefring, L. Wee, A.Jugessur, H.K. Gjessing, S.T.Nilsen and R.T. Lie, Maternal anigitensinogen (AGT) haplotypes, fetal rennin (REN) haplotypes and risk of preeclampsia; estimation of gene-gene interaction from family-triad data, accepted in BMC Medical genetics 11 (2010).
17. J.C. Barrett, B. Fry, J. Maller and M.J. Daly, Haploview: analysis and visualization of LD and haplotype maps, Bioinfor-matics 21 (2005), 263-265. (Pubitemid 40202029)
18. C.T. Wittwer, M.G. herrmann, C.N. Gundry and K.S.J. Elentitoba-Johnson, Real-time multiplex PCR assays, Methods 25 (2001), 430-442. (Pubitemid 34164015)
19. R.L. Margraf, R. Mao and C.T. Wittwer, Masking selected sequences variation by incorporating mismatches into melting analysis probes, Human mutation 27 (2006), 269-278.
20. N. von Ahsen, E. Schütz, V.W. Armstrong and M. Oellerich, Rapid detection of prothrombotic mutations of prothrombin (G20210A), factor V (G1691A), and methylenetetrahydrofo-late reductase (C677) by real-time fluorescence PCR with the LightCycler, Clinical Chemistry 45 (1999), 694-696. (Pubitemid 29220337)
21. V. Bach, M.J. Barceló, A. Altés, A. Remacha, J. Félez and J. Baiget, Genotyping the HFE gene by melting point analysis with the LightCycler system: Pros and Cons, Blood Cells, Molecules, and Diseases 36 (2006), 288-291.
22. G. Bodlaj, M. Stöcher, P. Hufnagl, R. Hubmann, G. Biesen-bach, H. Stekel and J. Berg, Genotyping of the lactase-phlorizin hydrolase -13910 polymorphism by LightCycler PCR and implications for the diagnosis of lactose intolerance, Clinical Chemistry 52 (2006), 148-151. (Pubitemid 43032480)
23. C.G Tag, M.C. Schifflers, M. Mohnen, A.M. Gressner and R.Weiskirchen, A novel proximal -13914G > A base replacement in the vicinity of the common-13910T/C lactase gene variation results in an atypical LightCycler melting curve in testing with the MutaREAL Lactase test, Clinical Chemistry 53 (2007), 146-148. (Pubitemid 46047780)
24. M. Wylenzek, C. Geisen, L. Stapenhorst, K. Wielckens and K.R. Klingler, A novel point mutation in the 3' region of the prothrombin gene at position 20221 in a Lebanese/Syrian family, Thrombosis and haemostasis 85 (2001), 943-944. (Pubitemid 32421837)
25. I. Warshawsky, C. Hren, L. Sercia, B. Shadrach, S.R. Deitch-er, E. Newton and K. Kottke-Marchant, Detection of a novel point mutation of the prothrombin gene at position 20209, Diagnostic Molecular Pathology 11 (2002), 152-156.
26. C.G. Tag, M.C. Schifflers, M. Mohnen, A.M. Gressner and R. Weiskirchen, Atypical melting curve resulting from genetic variation in the 3' untranslated region at position 20218 in the prothrombin gene analyzed with the LightCycler factor II (prothrombin) G20210A assay, Clinical Chemistry 51 (2005), 1560-1561. (Pubitemid 41060907)
27. E. Lyon, A. Millson, T. Phan and C.T. Wittwer, Detection and Identification of Base Alterations Within the Region of Factor V Leiden by Fluorescent Melting Curves, Molecular Diagnosis 3 (1998), 203-209.
28. C.G. Tag, C. Oberkanins, G. Kriegshauser, C.J. Ingram, D.M. Swallow, A.M. Gressner, M. Ledochowski and R. Weiskirchen, Evaluation of a novel reverse-hybridization Stri-pAssay for typing DNA variants useful in diagnosis of adult-type hypolactasia, Clinica Chimica Acta 392 (2008), 58-62.