The application of linkage analysis to genetic counselling in families with Duchenne or Becker muscular dystrophy.

A total of 278 families of probands with Duchenne or Becker muscular dystrophy has been ascertained and offered genetic counselling. Linkage studies have been performed in these families using polymorphic DNA markers identifying loci linked to Duchenne and Becker muscular dystrophy. The clinical features of the probands are discussed: there was marked intrafamilial resemblance in the severity of the disease. We estimate that a complete study of potential carriers in these families would require analysis of samples from approximately 1400 subjects. The results of linkage studies tended to move women's carrier risk estimates (based on CK and pedigree data) towards the extremes of the risk categories, providing a more definitive risk estimate for 81% of the women who were previously in the middle range of carrier risk probabilities. About 70% of the families had only one affected member. Linkage analysis altered carrier risk estimates in 95% of sisters and aunts of index cases, but only affected estimates of the mother's carrier risks in about 11% of isolated cases. Even where linkage studies were not helpful in elucidating carrier risks, information could usually be obtained for use in prenatal diagnosis if required. We have assessed the attitudes to pregnancy and prenatal diagnosis of women at risk of being carriers of Duchenne or Becker muscular dystrophy and report 17 pregnancies in these women.

[1]  C. Cole,et al.  Linkage studies in Duchenne and Becker muscular dystrophies. , 1986, Journal of medical genetics.

[2]  C. Cole,et al.  The screening of Duchenne muscular dystrophy patients for submicroscopic deletions. , 1986, Journal of medical genetics.

[3]  J. Opitz,et al.  Investigation on genetic heterogeneity in Duchenne muscular dystrophy. , 1986, American journal of medical genetics.

[4]  P. Harper,et al.  The use of flanking markers in prediction for Duchenne muscular dystrophy. , 1986, Archives of disease in childhood.

[5]  M. Sarfarazi,et al.  A computer programme for estimation of genetic risk in X linked disorders, combining pedigree and DNA probe data with other conditional information. , 1986, Journal of medical genetics.

[6]  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.

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

[8]  S. Latt,et al.  Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. , 1985, American journal of human genetics.

[9]  J. Aldridge,et al.  A strategy to reveal high-frequency RFLPs along the human X chromosome. , 1984, American journal of human genetics.

[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]  V. Dubowitz.  Investigation of Neuromuscular Disorders , 1983, Journal of the Royal College of Physicians of London.

[12]  R. Newcombe,et al.  Carrier detection in Duchenne muscular dystrophy. Evidence from a study of obligatory carriers and mothers of isolated cases. , 1979, Archives of disease in childhood.

[13]  A. Emery,et al.  A study of possible heterogeneity in Duchenne muscular dystrophy , 1979, Clinical genetics.

[14]  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.

[15]  A. Emery,et al.  Clinical studies in benign (Becker type) X‐linked muscular dystrophy , 1976, Clinical genetics.

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

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

[18]  F. Dreifuss,et al.  Mild and severe forms of X-linked muscular dystrophy. , 1969, Archives of neurology.

[19]  Emery Ae.  Carrier detection in sex-linked muscular dystrophy. , 1965 .

[20]  J. Gargus,et al.  Chromosome deletion 1q42-43. , 1986, American journal of medical genetics.

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

[22]  M. W. Thompson,et al.  Cloning of the breakpoint of an X;21 translocation associated with Duchenne muscular dystrophy , 1985, Nature.

[23]  of Screening , 2022 .