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A. Speer, Spiegler Aw, R. Hanke, K. Grade, U. Giertler, J. Schieck, S. Forrest, Kay Davies, R. Neumann, R. Bollmann (1989)
Possibilities and limitation of prenatal diagnosis and carrier determination for Duchenne and Becker muscular dystrophy using cDNA probes.Journal of Medical Genetics, 26
Louis Kunkel, Umadevi Tantravahi, M. Eisenhard, S. Latt (1982)
Regional localization on the human X of DNA segments cloned from flow sorted chromosomes.Nucleic acids research, 10 5
R. Greenstein, M. Reardon, T. Chan (1977)
AN X/AUTOSOME TRANSLOCATION IN A GIRL WITH DUCHENNE MUSCULAR DYSTROPHY (DMD): EVIDENCE FOR DMD GENE LOCALIZATIONPediatric Research, 11
P. Wieacker, K. Davies, P. Pearson, H. Ropers (1983)
CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY BY USE OF CLONED DNA SEQUENCESThe Lancet, 321
A. Gale, E. Murphy (1979)
The use of serum creatine phosphokinase in genetic counseling for Duchenne muscular dystrophy. II. Review of methods of assay and factors which may be relevant in the interpretation of serum creatine phosphokinase activity.Journal of chronic diseases, 32 9-10
B. Darras, U. Francke (1988)
Normal human genomic restriction-fragment patterns and polymorphisms revealed by hybridization with the entire dystrophin cDNA.American journal of human genetics, 43 5
P. Harper, T. O'brien, J. Murray, K. Davies, P. Pearson, R. Williamson (1983)
The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy.Journal of Medical Genetics, 20
J. Witkowski (1988)
The molecular genetics of Duchenne muscular dystrophy: the beginning of the end?Trends in genetics : TIG, 4 2
Uta Francke, Hans Ochs, B. Martinville, Joseph Giacalone, Valerie Lindgren, Christine DISTEfCHE, R. Pagon, G. Ommen, L. Peter, Pearson, Ralph Wedgwood (1985)
Minor Xp21 chromosome deletion in a male associated with expression of Duchenne muscular dystrophy, chronic granulomatous disease, retinitis pigmentosa, and McLeod syndrome.American journal of human genetics, 37 2
M. Lindlöf, A. Kiuru, H. Kääriäinen, H. Kalimo, H. Lang, H. Pihko, J. Rapola, H. Somer, M. Somer, M. Savontaus (1989)
Gene deletions in X-linked muscular dystrophy.American journal of human genetics, 44 4
J. Gilchrist, J. Vance, M. Vance, L. Yamaoka, W. Hung, J. Chutkow, A. Roses (1987)
Linkage analysis in autosomal dominant limb girdle muscular dystrophyCytogenetic and Genome Research, 46
Egbert Bakker, C. Broeckhoven, E. Bonten, M. Vooren, H. Veenema, W. Hul, G. Ommen, Antoon Vandenberghe, Peter Pearson (1987)
Germline mosaicism and Duchenne muscular dystrophy mutationsNature, 329
(1988)
Cosmid cloning , FIGE mapping , chromosome walking and RFLP study of a distal , intragenic DMD - deletion endpoint , expanding the DMD gene to 1 . 8 million bp
M. Hofker, M. Wapenaar, N. Goor, E. Bakker, G. Ommen, P. Pearson (1985)
Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophyHuman Genetics, 70
(1987)
Hybrid cell - mediated cloning of a new intragenic sequence from the 3 ’ - region of the DMD gene . Cyto - genet
Patricia Ward, J. Hejtmancik, Jan Witkowski, L. Baumbach, S. Gunnell, J. Speer, P. Hawley, U. Tantravahi, Charles Caskey (1989)
Prenatal diagnosis of Duchenne muscular dystrophy: prospective linkage analysis and retrospective dystrophin cDNA analysis.American journal of human genetics, 44 2
(1989)
Regional mapping of coagulation factor IX gene and several unique DNA sequences of the human X chromosome
Eric Hoffman, Robert Brown, Louis Kunkel (1987)
Dystrophin: The protein product of the duchenne muscular dystrophy locusCell, 51
J. Chen, J. Hejtmancik, G. Romeo, M. Lindlof, C. Boehm, C. Caskey, W. Kress, K. Fischbeck, M. Dreier, S. Serravalle (1989)
A genetic linkage map of five marker loci in and around the Duchenne muscular dystrophy locus.Genomics, 4 1
P. Ray, B. Belfall, C. Duff, C. Logan, V. Kean, M. Thompson, J. Sylvester, J. Gorski, R. Schmickel, R. Worton (1985)
Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophyNature, 318
H. Kingston, M. Sarfarazi, R. Newcombe, N. Willis, P. Harper (1985)
Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysisClinical Genetics, 27
M. Koenig, E. Hoffman, C. Bertelson, A. Monaco, C. Feener, L. Kunkel (1987)
Complete cloning of the duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individualsCell, 50
D. Page, A. Chapelle (1984)
The parental origin of X chromosomes in XX males determined using restriction fragment length polymorphisms.American journal of human genetics, 36 3
J. Koh, M. Pericak-Vance, L. Yamaoka, W. Hung, R. Worton, J. Lee, R. Kandt, R. Bartlett, M. Speer, K. Phillips, P. Ray, J. Gilbert, T. Siddique, A. Roses (1987)
INHERITED DELETION AT DUCHENNE DYSTROPHY LOCUS IN NORMAL MALEThe Lancet, 330
M. Lindlöf, H. Kääriäinen, K. Davies, A. Chapelle (1986)
Carrier detection and prenatal diagnosis in X linked muscular dystrophy using restriction fragment length polymorphisms.Journal of Medical Genetics, 23
B. Darras, J. Harper, U. Francke (1987)
Prenatal diagnosis and detection of carriers with DNA probes in Duchenne's muscular dystrophy.The New England journal of medicine, 316 16
B. Darras, U. Francke (1987)
A partial deletion of the muscular dystrophy gene transmitted twice by an unaffected maleNature, 329
(1989)
Possibilities and limitations of prenatal diagnosis and carrier
Garth Nicholson, G. Morgan, M. Meerkin, E. Strauss, J. McLeod (1986)
The effect of aerobic exercise on serum creatine kinase activitiesMuscle & Nerve, 9
L. Kunkel, co-authors (1986)
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophyNature, 322
J. Goodship, S. Malcolm, M. Robertson, M. Pembrey (1988)
Service experience using DNA analysis for genetic prediction in Duchenne muscular dystrophy.Journal of Medical Genetics, 25
L. Kunkel, A. Monaco, W. Middlesworth, H. Ochs, S. Latt (1985)
Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion.Proceedings of the National Academy of Sciences of the United States of America, 82 14
DNA-analysis with flanking and intragenic markers gave confusing results in 7 out of 74 (9.5%) Finnish families with Duchenne or Becker muscular dystrophy. In five families a sister or maternal aunt of the patient had elevated serum creatine kinase (CK) activity, although DNA-analysis indicated a low risk for carriership. In one family the two affected brothers had different pERT87 alleles. In one family the intragenic deletion found in a patient was not present in his mother, who was an obligatory carrier. Deletions were detected with cDNA probes in the probands in five of the families, but the controversy regarding carriership still remained. It is necessary to combine all available data from pedigree analysis, CK measurements, and DNA studies whenever carrier studies are performed, but it appears that major problems in counselling and prenatal diagnosis will still remain in a proportion of the families.
Clinical Genetics – Wiley
Published: Mar 1, 1990
Keywords: carrier detection; creatine kinase; DNA; Duchenne and Becker muscular dystrophy; genetic counselling
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