Use of serum creatine kinase, pyruvate kinase, and genetic linkage for carrier detection in Duchenne and Becker dystrophy

Carrier detection in Duchenne dystrophy (DD) and Becker dystrophy (BD) can be achieved with DNA probes that recognize restriction fragment length polymorphisms (RFLPs). In 22 families, we found that 16 of 23 females at risk for being DD or BD carriers could be provided with more definitive indications of carrier status beyond the use of creatine kinase/ pyruvate kinase and pedigree analysis. RFLP analysis was not possible for six individuals despite potentially informative probes, because family members critical to the analysis were unavailable. In only one instance were all eight probes uninformative.

[1]  N E Morton,et al.  Report of the Committee on Methods of Linkage Analysis and Reporting. , 1985, Cytogenetics and cell genetics.

[2]  A. Monaco,et al.  Specific cloning of DNA fragments absent from the DNA of a male patient with an X chromosome deletion. , 1985, Proceedings of the National Academy of Sciences of the United States of America.

[3]  M. Wapenaar,et al.  Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy , 1985, Human Genetics.

[4]  R. Newcombe,et al.  Carrier detection in Becker muscular dystrophy using creatine kinase estimation and DNA analysis , 1985, Clinical genetics.

[5]  H. Willard,et al.  PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs , 1985, The Lancet.

[6]  M. Rocchi,et al.  Mapping of X-linked Becker muscular dystrophy through crossovers identified by DNA polymorphisms and by haplotype characterization in somatic cell hybrids. , 1985, American journal of human genetics.

[7]  J. Miller,et al.  Clinical investigation in Duchenne Dystrophy: V. Use of creatine kinase and pyruvate kinase in carrier detection , 1985, Muscle & nerve.

[8]  A. Emery,et al.  DNA PROBES IN DUCHENNE MUSCULAR DYSTROPHY , 1984, The Lancet.

[9]  R. Doolittle,et al.  Structure and expression of a complementary DNA for the nuclear coded precursor of human mitochondrial ornithine transcarbamylase. , 1984, Science.

[10]  M. Pembrey,et al.  Clinical use of DNA markers linked to the gene for Duchenne muscular dystrophy. , 1984, Archives of disease in childhood.

[11]  K. Davies,et al.  The use of linked DNA polymorphisms for genotype prediction in families with Duchenne muscular dystrophy. , 1983, Journal of medical genetics.

[12]  P. Harper,et al.  Genetic linkage between Becker muscular dystrophy and a polymorphic DNA sequence on the short arm of the X chromosome. , 1983, Journal of medical genetics.

[13]  K. Davies,et al.  CARRIER DETECTION IN DUCHENNE MUSCULAR DYSTROPHY BY USE OF CLONED DNA SEQUENCES , 1983, The Lancet.

[14]  K. Davies,et al.  Linkage analysis of two cloned DNA sequences flanking the Duchenne muscular dystrophy locus on the short arm of the human X chromosome. , 1983, Nucleic acids research.

[15]  K. Davies,et al.  Linkage relationship of a cloned DNA sequence on the short arm of the X chromosome to Duchenne muscular dystrophy , 1982, Nature.

[16]  M. W. Thompson,et al.  Duchenne muscular dystrophy carrier detection using logistic discrimination: serum creatine kinase, hemopexin, pyruvate kinase, and lactate dehydrogenase in combination. , 1982, American journal of medical genetics.

[17]  P. Hunt,et al.  Duchenne muscular dystrophy (DMD) in a female with an X/autosome translocation: further evidence that the DMD locus is at Xp21. , 1981, American journal of human genetics.

[18]  M. Brooke,et al.  Clinical trial in duchenne dystrophy. I. The design of the protocol , 1981, Muscle & nerve.

[19]  D. Housman,et al.  Precise localization of human beta-globin gene complex on chromosome 11. , 1979, Proceedings of the National Academy of Sciences of the United States of America.

[20]  G. Clarke,et al.  Muscular dystrophy in an X; 1 translocation female suggests that Duchenne locus is on X chromosome short arm. , 1979, Journal of medical genetics.

[21]  L. Kunkel,et al.  Analysis of human Y-chromosome-specific reiterated DNA in chromosome variants. , 1977, Proceedings of the National Academy of Sciences of the United States of America.

[22]  E. Southern.  Detection of specific sequences among DNA fragments separated by gel electrophoresis. , 1975, Journal of molecular biology.

[23]  F. Samaha,et al.  Serum pyruvate kinase in muscle disease and carrier states , 1974, Neurology.

[24]  E. Murphy,et al.  The Application of Bayesian Methods in Genetic Counselling , 1969 .

[25]  K. Davies,et al.  Report of the committee on the genetic constitution of the X and Y chromosomes. , 1987, Cytogenetics and cell genetics.

[26]  A. Monaco,et al.  Detection of deletions spanning the Duchenne muscular dystrophy locus using a tightly linked DNA segment , 1985, Nature.

[27]  R. Greenstein,et al.  An (X;11) translocation in a girl with Duchenne muscular dystrophy. Repository identification No. GM1695. , 1980, Cytogenetics and cell genetics.