Skip Navigation

This Article
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Add to My Personal Archive
Right arrow Download to citation manager
Right arrow Search for citing articles in:
ISI Web of Science (146)
Right arrowRequest Permissions
Google Scholar
Right arrow Articles by Ravnlk-Glavac, M.
Right arrow Articles by Dean, M.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Ravnlk-Glavac, M.
Right arrow Articles by Dean, M.
Social Bookmarking
Add to CiteULike   Add to Connotea   Add to Del.icio.us  
What's this?

© 1994 Oxford University Press

OTHER

Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene

Metka Ravnlk-Glavac, Damjan Glavac and Michael Dean1,*

Biological Carcinogenesis and Development Program, Program Resources, Inc/DynCorp 1Laboratory of Viral Carcinogenesis, National Cancer Institute, Frederick Cancer Research and Development Center, Frederck, MD 21702–1201 USA

*To whom correspondence should be addressed

Received December 27, 1993; Accepted March 5, 1994

The gene responsible for cystic fibrosis (CF) contains 27 coding exons and more than 300 Independent mutations have been identified. An efficient and optimized strategy is required to identify additional mutations and/or to screen patient samples for the presence of known mutations. We have tested several different conditions for performing single-stranded conformation polymorphism (SSCP) analysis in order to determine the efficiency of the method and to Identify the optimum conditions for mutation detection. Each exon and corresponding exon boundaries were amplified. A panel of 134 known CF mutations were used to test the efficiency of detection of mutations. The SSCP conditions were varied by altering the percentage and cross-linking of the acrylamide, employing MDE (an acrylamide substitute), and by adding sucrose and glycerol. The presence of heteroduplexes could be detected on most gels and in some cases contributed to the ability to distinguish certain mutations. Each analysis condition detected 75–98% of the mutations, and all of the mutations could be detected by at least one condition. Therefore, an optimized (SSCP) analysis can be used to efficintly screen for mutations In a large gene.


Add to CiteULike CiteULike   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us    What's this?


This article has been cited by other articles:


Home page
 J. Clin. Microbiol.Home page
C. O. Igboin, A. L. Griffen, and E. J. Leys
Porphyromonas gingivalis Strain Diversity
J. Clin. Microbiol., October 1, 2009; 47(10): 3073 - 3081.
[Abstract] [Full Text] [PDF]

Home page
 Anesth. Analg.Home page
H.-M. Yeh, M.-C. Tsai, Y.-N. Su, R.-C. Shen, J.-J. Hwang, W.-Z. Sun, and L.-P. Lai
Denaturing High Performance Liquid Chromatography Screening of Ryanodine Receptor Type 1 Gene in Patients with Malignant Hyperthermia in Taiwan and Identification of a Novel Mutation (Y522C)
Anesth. Analg., November 1, 2005; 101(5): 1401 - 1406.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
E. Dempsey, D. E. Barton, and F. Ryan
Detection of Five Common CFTR Mutations by Rapid-Cycle Real-Time Amplification Refractory Mutation System PCR
Clin. Chem., April 1, 2004; 50(4): 773 - 775.
[Full Text] [PDF]

Home page
 IOVSHome page
I. Bader, O. Brandau, H. Achatz, E. Apfelstedt-Sylla, M. Hergersberg, B. Lorenz, B. Wissinger, B. Wittwer, G. Rudolph, A. Meindl, et al.
X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Invest. Ophthalmol. Vis. Sci., April 1, 2003; 44(4): 1458 - 1463.
[Abstract] [Full Text] [PDF]

Home page
 J HeredHome page
M. Menotti-Raymond, V. A. David, Z. Q. Chen, K. A. Menotti, S. Sun, A. A. Schaffer, R. Agarwala, J. F. Tomlin, S. J. O'Brien, and W. J. Murphy
Second-Generation Integrated Genetic Linkage/Radiation Hybrid Maps of the Domestic Cat (Felis catus)
J. Hered., January 1, 2003; 94(1): 95 - 106.
[Abstract] [Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
B. Arko, J. Prezelj, R. Komel, A. Kocijancic, P. Hudler, and J. Marc
Sequence Variations in the Osteoprotegerin Gene Promoter in Patients with Postmenopausal Osteoporosis
J. Clin. Endocrinol. Metab., September 1, 2002; 87(9): 4080 - 4084.
[Abstract] [Full Text] [PDF]

Home page
 DiabetesHome page
A. T.W. Choo-Kang, S. Lynn, G. A. Taylor, M. E. Daly, S. S. Sihota, T. M. Wardell, P. F. Chinnery, D. M. Turnbull, and M. Walker
Defining the Importance of Mitochondrial Gene Defects in Maternally Inherited Diabetes by Sequencing the Entire Mitochondrial Genome
Diabetes, July 1, 2002; 51(7): 2317 - 2320.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
C Olivieri, E Mira, G Delu, F Pagella, A Zambelli, L Malvezzi, E Buscarini, and C Danesino
Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia
J. Med. Genet., July 1, 2002; 39(7): e39 - 39.
[Full Text] [PDF]

Home page
 Arch NeurolHome page
G. Terwindt, E. Kors, J. Haan, F. Vermeulen, A. van den Maagdenberg, R. Frants, M. Ferrari, and for the International Hemiplegic Migraine Research
Mutation Analysis of the CACNA1A Calcium Channel Subunit Gene in 27 Patients With Sporadic Hemiplegic Migraine
Arch Neurol, June 1, 2002; 59(6): 1016 - 1018.
[Abstract] [Full Text] [PDF]

Home page
 J. Med. Genet.Home page
U Potocnik, M Ravnik-Glavac, R Golouh, and D Glavac
Naturally occurring mutations and functional polymorphisms in multidrug resistance 1 gene: correlation with microsatellite instability and lymphoid infiltration in colorectal cancers
J. Med. Genet., May 1, 2002; 39(5): 340 - 346.
[Full Text] [PDF]

Home page
 J. Bacteriol.Home page
J. M. Falcon-Perez, M. Martinez-Burgos, J. Molano, M. J. Mazon, and P. Eraso
Domain Interactions in the Yeast ATP Binding Cassette Transporter Ycf1p: Intragenic Suppressor Analysis of Mutations in the Nucleotide Binding Domains
J. Bacteriol., August 15, 2001; 183(16): 4761 - 4770.
[Abstract] [Full Text] [PDF]

Home page
 JNCI J Natl Cancer InstHome page
D. A. Berry
Role of Population-Based Studies in Assessing Genetic Cancer Risk
J Natl Cancer Inst, August 15, 2001; 93(16): 1188 - 1189.
[Full Text] [PDF]

Home page
 J. Clin. Endocrinol. Metab.Home page
I. A. Holm, A. E. Nelson, B. G. Robinson, R. S. Mason, D. J. Marsh, C. T. Cowell, and T. O. Carpenter
Mutational Analysis and Genotype-Phenotype Correlation of the PHEX Gene in X-Linked Hypophosphatemic Rickets
J. Clin. Endocrinol. Metab., August 1, 2001; 86(8): 3889 - 3899.
[Abstract] [Full Text] [PDF]

Home page
 Nucleic Acids ResHome page
P. Kozlowski and W. J. Krzyzosiak
Combined SSCP/duplex analysis by capillary electrophoresis for more efficient mutation detection
Nucleic Acids Res., July 15, 2001; 29(14): e71 - e71.
[Abstract] [Full Text] [PDF]

Home page
 PediatricsHome page
J. J. Wine, E. Kuo, G. Hurlock, and R. B. Moss
Comprehensive Mutation Screening in a Cystic Fibrosis Center
Pediatrics, February 1, 2001; 107(2): 280 - 286.
[Abstract] [Full Text]

Home page
 Arch NeurolHome page
S. Sorbi, P. Forleo, E. Cellini, S. Piacentini, A. Serio, B. Guarnieri, C. Petruzzi, P. I. Patel, and M. M. Dimachkie
Atypical Friedreich Ataxia With a Very Late Onset and an Unusual Limited GAA Repeat
Arch Neurol, September 1, 2000; 57(9): 1380 - 1382.
[Full Text] [PDF]

Home page
 J. Med. Genet.Home page
A. Astrinidis, L. Khare, T. Carsillo, T. Smolarek, K.-S. Au, H. Northrup, and E. P. Henske
Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis
J. Med. Genet., January 1, 2000; 37(1): 55 - 57.
[Abstract] [Full Text]

Home page
 J. Clin. Microbiol.Home page
E. J. Leys, J. H. Smith, S. R. Lyons, and A. L. Griffen
Identification of Porphyromonas gingivalis Strains by Heteroduplex Analysis and Detection of Multiple Strains
J. Clin. Microbiol., December 1, 1999; 37(12): 3906 - 3911.
[Abstract] [Full Text]

Home page
 GeneticsHome page
J. Jaruzelska, E. Zietkiewicz, M. Batzer, D. E. C. Cole, J.-P. Moisan, R. Scozzari, S. Tavaré, and D. Labuda
Spatial and Temporal Distribution of the Neutral Polymorphisms in the Last ZFX Intron: Analysis of the Haplotype Structure and Genealogy
Genetics, July 1, 1999; 152(3): 1091 - 1101.
[Abstract] [Full Text]

Home page
 ThoraxHome page
I. Bronsveld, J. Bijman, F. Mekus, M. Ballmann, H. J Veeze, and B. Tümmler
Clinical presentation of exclusive cystic fibrosis lung disease
Thorax, March 1, 1999; 54(3): 278 - 281.
[Abstract] [Full Text]

Home page
 J. Neurol. Neurosurg. PsychiatryHome page
J. C Jen, Q. Yue, J. Karrim, S. F Nelson, and R. W Baloh
Spinocerebellar ataxia type 6 with positional vertigo and acetazolamide responsive episodic ataxia
J. Neurol. Neurosurg. Psychiatry, October 1, 1998; 65(4): 565 - 568.
[Abstract] [Full Text]

Home page
 Am. J. Pathol.Home page
Z.-J. Wang, F. Taylor, M. Churchman, G. Norbury, and I. Tomlinson
Genetic Pathways of Colorectal Carcinogenesis Rarely Involve the PTEN and LKB1 Genes Outside the Inherited Hamartoma Syndromes
Am. J. Pathol., August 1, 1998; 153(2): 363 - 366.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
E. A. Hadly, M. H. Kohn, J. A. Leonard, and R. K. Wayne
A genetic record of population isolation in pocket gophers during Holocene climatic change
PNAS, June 9, 1998; 95(12): 6893 - 6896.
[Abstract] [Full Text] [PDF]

Home page
 Proc. Natl. Acad. Sci. USAHome page
D. Zagury, A. Lachgar, V. Chams, L. S. Fall, J. Bernard, J.-F. Zagury, B. Bizzini, A. Gringeri, E. Santagostino, J. Rappaport, et al.
C-C chemokines, pivotal in protection against HIV type 1 infection
PNAS, March 31, 1998; 95(7): 3857 - 3861.
[Abstract] [Full Text] [PDF]

Home page
 ScienceHome page
C. Winkler, W. Modi, M. W. Smith, G. W. Nelson, X. Wu, M. Carrington, M. Dean, T. Honjo, K. Tashiro, D. Yabe, et al.
Genetic Restriction of AIDS Pathogenesis by an SDF-1 Chemokine Gene Variant
Science, January 16, 1998; 279(5349): 389 - 393.
[Abstract] [Full Text]

Home page
 GutHome page
N E Beck, I P M Tomlinson, T F R Homfray, I M Frayling, S V Hodgson, and W F Bodmer
Frequency of germline hereditary non-polyposis colorectal cancer gene mutations in patients with multiple or early onset colorectal adenomas
Gut, August 1, 1997; 41(2): 235 - 238.
[Abstract] [Full Text] [PDF]

Home page
 Genome ResHome page
F. Francis, T. M. Strom, S. Hennig, A. Boddrich, B. Lorenz, O. Brandau, K. L. Mohnike, M. Cagnoli, C. Steffens, S. Klages, et al.
Genomic Organization of the Human PEX Gene Mutated in X-Linked Dominant Hypophosphatemic Rickets
Genome Res., June 1, 1997; 7(6): 573 - 585.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
A. D. Goddard, R. Covello, S.-M. Luoh, T. Clackson, K. M. Attie, N. Gesundheit, A. C. Rundle, J. A. Wells, L. M.S. Carlsson, and The Growth Hormone Insensitivity Study Group
Mutations of the Growth Hormone Receptor in Children with Idiopathic Short Stature
N. Engl. J. Med., October 26, 1995; 333(17): 1093 - 1098.
[Abstract] [Full Text] [PDF]


Disclaimer: Please note that abstracts for content published before 1996 were created through digital scanning and may therefore not exactly replicate the text of the original print issues. All efforts have been made to ensure accuracy, but the Publisher will not be held responsible for any remaining inaccuracies. If you require any further clarification, please contact our Customer Services Department.