Mutation detection in patients with familial hypercholesterolaemia using heteroduplex and single strand conformation polymorphism analysis by capillary electrophoresis

Atherosclerosis Supplements

Volumn 5, Issue 5, 2004, Pages 7-11

  Sozen, Mert ^a   Whittall, Roslyn ^b   Humphries, Steve E ^b  

^a HACETTEPE UNIVERSITY   (Turkey)

^b KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

Fluorescence; Heteroduplex; LDLR; SSCP

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR;

ARTICLE; CAPILLARY ELECTROPHORESIS; COMPUTER ANALYSIS; EXON; FAMILIAL HYPERCHOLESTEROLEMIA; GENE MUTATION; HETERODUPLEX ANALYSIS; MACHINE; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; RELIABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE STRAND CONFORMATION POLYMORPHISM;

ELECTROPHORESIS, CAPILLARY; HETERODUPLEX ANALYSIS; HUMANS; HYPERLIPOPROTEINEMIA TYPE II; MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECEPTORS, LDL;

EID: 8844287571     PISSN: 15675688     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.atherosclerosissup.2004.09.003     Document Type: Article

References (13)

1. J.L. Goldstein, H.H. Hobbs, and M.S. Brown Familial hypercholesterolemia C.R. Scriver A.L. Beaudet W.S. Sly D. Valle The metabolic and molecular basis of inherited disease 1995 McGraw-Hill New York p. 1981-2030
2. T.C. Sudhof, J.L. Goldstein, M.S. Brown, and D.W. Russel The LDL receptor gene: a mosaic of exons shard with different proteins Science 228 1985 815 822
3. S.E. Humphries, V. Gudnason, R. Whittall, and I.N. Day Single-strand conformation polymorphism analysis with high throughput modifications, and its use in mutation detection in familial hypercholesterolemia. International Federation of Clinical Chemistry Scientific Division: Committee on Molecular Biology Techniques Clin Chem 43 3 1997 427 435 [review]
4. P. Lombardi, E.J.G. Sijbrands, and K. van de Giessen Mutations in the LDLR gene of familial hypercholesterolaemic patients detected by denaturing gradient gel electrophoresis and direct sequencing J Lipid Res 36 1995 860 867
5. R. Ligouri, A. Argiriou, and V. De Simone A rapid method for detecting mutations in the human LDL receptor gene by complete cDNA sequencing Mol Cell Probes 17 2003 15 20
6. I.N. Day, R.A. Whittall, and S.D. O'Dell Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia Hum Mutat 10 2 1997 116 127
7. Simon Broome Steering Committee: risk of fatal coronary heart disease in familial hypercholesterolaemia. Scientific Steering Committee on behalf of the Simon Broome Register Group Br Med J 303 6807 1991 893 896
8. S.A. Miller, D.D. Dykes, and H.F. Polesky A simple salting out procedure for extracting DNA from human nucleated cells Nucl Acids Res 16 1988 1215
9. S. Amsellem, D. Briffaut, and A. Carrie Intronic mutations outside the Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolaemia Hum Genet 111 2002 501 510
10. V.C. Sheffield, J.S. Beck, A.E. Kwitek, D.W. Sandstrom, and E.M. Stone The sensitivity of single-strand conformation polymorphism analysis for the detection of single base substitutions Genomics 16 2 1993 325 332
11. L.A. Larsen, M. Christiansen, J. Vuust, and P.S. Andersen High-throughput SSCP analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants Hum Mutat 13 1999 318 327
12. Y. Kukita, T. Tahira, S.S. Sommer, and K. Hayashi SSCP analysis of long DNA fragments in low pH gel Hum Mutat 10 5 1997 400 407
13. J. Mogensen, A. Bahl, and T. Kubo Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation detection for mutation screening in hypertrophic cardiomyopathy J Med Genet 40 2003 e59 http://www.jmedgenet.com/cgi/content/full/40/5/e59