Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis

BMC Medical Genetics

Volumn 12, Issue , 2011, Pages

  Winkel, Bo G ^a   Hollegaard, Mads V ^b   Olesen, Morten S ^a   Svendsen, Jesper H ^a,c   Haunsø, Stig ^a,c   Hougaard, David M ^b   Tfelt Hansen, Jacob ^a  

^a International Center for Research and Research Training in Endocrine Disruption of Male Reproduction and Child Health   (Denmark)

^b STATENS SERUM INSTITUT   (Denmark)

^c UNIVERSITY OF COPENHAGEN   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; POTASSIUM CHANNEL KV1.5; SODIUM CHANNEL NAV1.5; KCNA5 PROTEIN, HUMAN; MUSCLE PROTEIN; SCN5A PROTEIN, HUMAN; SODIUM CHANNEL;

ADULT; ARTICLE; BLOOD CULTURE; BLOOD SAMPLING; CLINICAL ARTICLE; DNA SEQUENCE; DRIED BLOOD SPOT; GENETIC VARIABILITY; HEART ATRIUM FIBRILLATION; HUMAN; INTRON; NUCLEOTIDE SEQUENCE; BLOOD STORAGE; COMPARATIVE STUDY; EVALUATION; GENETICS; GENOME; GENOMICS; HEAT; HUMAN GENOME; LABORATORY DIAGNOSIS; METHODOLOGY; NEWBORN; NUCLEIC ACID AMPLIFICATION; PHASE TRANSITION; STANDARD;

ADULT; BLOOD PRESERVATION; BLOOD SPECIMEN COLLECTION; GENOME; GENOME, HUMAN; GENOMICS; HOT TEMPERATURE; HUMANS; INFANT, NEWBORN; KV1.5 POTASSIUM CHANNEL; MUSCLE PROTEINS; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PHASE TRANSITION; SODIUM CHANNELS; SPECIMEN HANDLING;

EID: 79651475062     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-12-22     Document Type: Article

References (22)

1. Sjoholm MIL, Dillner J, Carlson J. "Assessing Quality and Functionality of DNA from Fresh and Archival Dried Blood Spots and Recommendations for Quality Control Guidelines,". Clinical Chemistry 2007, 53(8):1401-1407. 10.1373/clinchem.2007.087510, 17586590.
2. Lovmar L, Syvänen A. "Multiple displacement amplification to create a long-lasting source of DNA for genetic studies,". Human Mutation 2006, 27(7):603-614. 10.1002/humu.20341, 16786504.
3. Nørgaard-Pedersen B, Hougaard D. "Storage policies and use of the Danish Newborn Screening Biobank,". Journal of Inherited Metabolic Disease 2007, 30(4):530-536.
4. Aoki K. "Newborn screening in Japan,". The Southeast Asian Journal of Tropical Medicine and Public Health 2003, 34:80.
5. de Carvalho TM, dos Santos HP, dos Santos ICGP, Vargas PR, Pedrosa J. "Newborn screening: a national public health programme in Brazil,". Journal of Inherited Metabolic Disease 2007, 30(4):615. 10.1007/s10545-007-0650-7, 17694357.
6. Olney RS, Moore CA, Ojodu JA, Lindegren ML, Hannon WH. "Storage and use of residual dried blood spots from state newborn screening programs,". The Journal of Pediatrics 2006, 148(5):618-622. 10.1016/j.jpeds.2005.12.053, 16737872.
7. Therrell BL, Adams J. "Newborn screening in North America,". Journal of Inherited Metabolic Disease 2007, 30(4):447-465. 10.1007/s10545-007-0690-z, 17643194.
8. Therrell BL, et al. "Guidelines for the retention, storage, and use of residual dried blood spot samples after newborn screening analysis: statement of the Council of Regional Networks for Genetic Services,". Biochemical and Molecular Medicine 1996, 57(2):116-124. 10.1006/bmme.1996.0017, 8733889.
9. Webster D. "Newborn screening in Australia, New Zealand,". The Southeast Asian Journal of Tropical Medicine and Public Health 2003, 34:69-70.
10. Wilcken B, Wiley V. "Newborn screening,". Pathology 2008, 40(2):104-115. 10.1080/00313020701813743, 18203033.
11. Nørgaard-Pedersen B, Simonsen H. "Biological specimen banks in neonatal screening,". Acta Paediatrica (Oslo, Norway: 1992). Supplement 1999, 88(432):106-109.
12. Hollegaard MV, et al. "Whole Genome Amplification and Genetic Analysis after Extraction of Proteins from Dried Blood Spots,". Clin Chem 2007, 53(6):1161-1162. 10.1373/clinchem.2006.082313, 17517589.
13. Hollegaard MV, et al. "Genome-wide scans using archived neonatal dried blood spot samples,". BMC Genomics 2009, 10:297-297. 10.1186/1471-2164-10-297, 2713266, 19575812.
14. Hollegaard MV, Thorsen P, Norgaard-Pedersen B, Hougaard DM. "Genotyping whole-genome-amplified DNA from 3-to 25-year-old neonatal dried blood spot samples with reference to fresh genomic DNA,". ELECTROPHORESIS 2009, 30(14):2532-2535. 10.1002/elps.200800655, 19639574.
15. Tfelt-Hansen J, Winkel BG, Grunnet M, Jespersen T. "Inherited Cardiac Diseases Caused by Mutations in the Nav1.5 Sodium Channel,". Journal of Cardiovascular Electrophysiology 2010, 21(1):107-115. 10.1111/j.1540-8167.2009.01633.x, 19845816.
16. Yang Y, et al. "Novel KCNA5 loss-of-function mutations responsible for atrial fibrillation,". J Hum Genet 2009,
17. Gouas L, et al. "Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population,". European Journal of Human Genetics 2005, 13(11):1213-1222. 10.1038/sj.ejhg.5201489, 16132053.
18. Fodstad H, et al. "Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland,". Annals of Medicine 36(1):53-63. 10.1080/17431380410032689, 15176425.
19. Simard C, Drolet B, Yang P, Kim RB, Roden DM. "Polymorphism screening in the cardiac K+ channel gene KCNA5,". Clinical Pharmacology and Therapeutics 2005, 77(3):138-144. 10.1016/j.clpt.2004.10.008, 15735608.
20. Cho MH, Ciulla D, Klanderman BJ, Raby BA, Silverman EK. "High Resolution Melting Curve Analysis of Genomic and Whole Genome Amplified DNA,". Clinical chemistry 2008, 54(12):2055-2058. 10.1373/clinchem.2008.109744, 2755063, 19042988.
21. Dobrowolski SF, McKinney JT, Filippo CADS, Sim KG, Wilcken B, Longo N. "Validation of dye-binding/high-resolution thermal denaturation for the identification of mutations in the SLC22A5 gene,". Human Mutation 2005, 25(3):306-313. 10.1002/humu.20137, 15714519.
22. Lambiase PD, Elliott PM. "Genetic aspects and investigation of sudden death in young people,". Clinical Medicine (London, England) 2008, 8(6):607-10.