Optimization of high-resolution melting analysis for simultaneous genotyping of two 11β-hydroxysteroid dehydrogenase type 1 gene polymorphisms

Genetic Testing and Molecular Biomarkers

Volumn 15, Issue 1-2, 2011, Pages 43-49

  Dujic, Tanja ^a   Ostanek, Barbara ^b   Marc, Janja ^b   Causevic, Adlija ^a   Mlinar, Barbara ^b  

^a UNIVERSITY OF SARAJEVO   (Bosnia and Herzegovina)

^b UNIVERSITY OF LJUBLJANA   (Slovenia)

Author keywords

[No Author keywords available]

Indexed keywords

11BETA HYDROXYSTEROID DEHYDROGENASE 1; DNA;

ACCURACY; ARTICLE; CONTROLLED STUDY; COST EFFECTIVENESS ANALYSIS; DNA POLYMORPHISM; GENETIC ANALYSIS; GENOTYPE; HIGH RESOLUTION MELTING; HUMAN; MAJOR CLINICAL STUDY; OVARY POLYCYSTIC DISEASE; POLYMERASE CHAIN REACTION; PROCESS OPTIMIZATION; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SENSITIVITY AND SPECIFICITY;

11-BETA-HYDROXYSTEROID DEHYDROGENASE TYPE 1; FEMALE; GENE EXPRESSION PROFILING; GENOTYPE; HUMANS; POLYCYSTIC OVARY SYNDROME; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 79951985777     PISSN: 19450265     EISSN: 19450257     Source Type: Journal    
DOI: 10.1089/gtmb.2010.0105     Document Type: Article

References (22)

1. Alberti L, Girola A, Gilardini L, et al. (2007) Type 2 diabetes and metabolic syndrome are associated with increased expression of 11beta-hydroxysteroid dehydrogenase 1 in obese subjects. Int J Obes (Lond) 31:1826-1831. (Pubitemid 350174630)
2. Desbriere R, Vuaroqueaux V, Achard V, et al. (2006) 11beta-hydroxysteroid dehydrogenase type 1 mRNA is increased in both visceral and subcutaneous adipose tissue of obese patients. Obesity (Silver Spring) 14:794-798. (Pubitemid 46219720)
3. Erali M, Voelkerding KV, Wittwer CT (2008) High resolution melting applications for clinical laboratory medicine. Exp Mol Pathol 85:50-58.
4. Franks PW, Knowler WC, Nair S, et al. (2004) Interaction between an 11betaHSD1 gene variant and birth era modifies the risk of hypertension in Pima Indians. Hypertension 44: 681-688. (Pubitemid 39435239)
5. Gelernter-Yaniv L, Feng N, Sebring NG, et al. (2003) Associations between a polymorphism in the 11β hydroxysteroid dehydrogenase type I gene and body composition. Int J Obes Relat Metab Disord 27:983-986. (Pubitemid 36918622)
6. Herrmann MG, Durtschi JD, Bromley LK, et al. (2006) Amplicon DNA melting analysis for mutation scanning and genotyping: cross-platform comparison of instruments and dyes. Clin Chem 52:494-503.
7. Jeffery N, Gasser RB, Steer PA, et al. (2007) Classification of Mycoplasma synoviae strains using single-strand conformation polymorphism and high-resolution melting-curve analysis of the vlhA gene single-copy region. Microbiology 153:2679-2688. (Pubitemid 47262057)
8. Lindsay RS, Wake DJ, Nair S, et al. (2003) Subcutaneous adipose 11 beta-hydroxysteroid dehydrogenase type 1 activity and messenger ribonucleic acid levels are associated with adiposity and insulinemia in Pima Indians and Caucasians. J Clin Endocrinol Metab 88:2738-2744. (Pubitemid 36724450)
9. Montgomery J, Wittwer CT, Palais R, et al. (2007) Simultaneous mutation scanning and genotyping by high-resolution DNA melting analysis. Nat Protoc 2:59-66. (Pubitemid 47040069)
10. Nair S, Lee YH, Lindsay RS, et al. (2004) 11β-Hydroxysteroid dehydrogenase Type 1: genetic polymorphisms are associated with Type 2 diabetes in Pima Indians independently of obesity and expression in adipocyte and muscle. Diabetologia 47: 1088-1095. (Pubitemid 38918169)
11. Norambuena PA, Copeland JA, Krenková P, et al. (2009) Diagnostic method validation: High resolution melting (HRM) of small amplicons genotyping for the most common variants in the MTHFR gene. Clin Biochem 42:1308-1316.
12. Paulsen SK, Pedersen SB, Fisker S, et al. (2007) 11Beta-HSD type 1 expression in human adipose tissue: impact of gender, obesity, and fat localization. Obesity (Silver Spring) 15:1954-1960.
13. Rask E, Walker BR, Soderberg S, et al. (2002) Tissue-specific changes in peripheral cortisol metabolism in obese women: increased adipose 11beta-hydroxysteroid dehydrogenase type 1 activity. J Clin Endocrinol Metab 87:3330-3336. (Pubitemid 34816385)
14. Reed GH, Kent JO, Wittwer CT (2007) High-resolution DNA melting analysis for simple and efficient molecular diagnostics. Pharmacogenomics 8:597-608. (Pubitemid 46939585)
15. Seckl JR, Morton NM, Chapman KE, et al. (2004) Glucocorticoids and 11β-hydroxysteroid dehydrogenase in adipose tissue. Recent Prog Horm Res 59:359-393.
16. Steer PA, Kirkpatrick NC, O'Rourke D, et al. (2009) Classification of fowl adenovirus serotypes by use of high-resolution melting-curve analysis of the hexon gene region. J Clin Microbiol 47:311-321.
17. Tomlinson JW, Walker EA, Bujalska IJ, et al. (2004) 11beta-hydroxysteroid dehydrogenase type 1: a tissue-specific regulator of glucocorticoid response. Endocr Rev 25:831-866. (Pubitemid 39366049)
18. van der Stoep N, van Paridon CD, Janssens T, et al. (2009) Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. Hum Mutat 30:899-909.
19. Vossen RH, Aten E, Roos A, et al. (2009) High-resolution melting analysis (HRMA): more than just sequence variant screening. Hum Mutat 30:860-866.
20. Wittwer CT (2009) High-resolution DNA melting analysis: advancements and limitations. Hum Mutat 30:857-859.
21. Wittwer CT, Reed GH, Gundry CN, et al. (2003) High-resolution genotyping by amplicon melting analysis using LCGreen. Clin Chem 49:853-860. (Pubitemid 36623462)
22. Zawadski JK, Dunaif A (1992) Diagnostic criteria for polycystic ovary syndrome: towards a rational approach. In: Dunaif A, Givens JR, Haseltine FP, Merriam GR (eds) Polycystic Ovary Syndrome. Blackwell Scientific Publications, Boston, pp 377-384.