Update on the molecular genetics of Duchenne muscular dystrophy

T. Siddique, R. Bartlett, Margaret A Pericak-Vance, L. Yamaoka, J. Koh, J. Chen, W. Y. Hung, R. Kandt, A. D. Roses

Research output: Contribution to journalArticle

Abstract

Three separate lines of evidence led to the assignment of the Duchenne muscular dystrophy (DMD) gene to the 21.2 band on the short arm of the X chromosome. A portion of the putative gene, thought to extend over 1-2 million base pairs has been recently cloned. DNA probes from the Xp21.2 region detect large deletions in 5-20% DMD boys and are presumed to lead to the DMD phenotype in those individuals. Deletions have also been noted in the DNA of patients with Becker muscular dystrophy. These exciting developments have a direct bearing on carrier detection and prenatal diagnosis. Prenatal diagnosis in deletion families approaches greater than 99% accuracy and can be utilized to save 50% of normal male fetuses carried by carrier mothers who would otherwise choose to abort all male fetuses.

Original languageEnglish
Pages (from-to)9-14
Number of pages6
JournalAustralian Paediatric Journal
Volume24
Issue numberSUPPL. 1
StatePublished - Jan 1 1988
Externally publishedYes

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Duchenne Muscular Dystrophy
Molecular Biology
Prenatal Diagnosis
Fetus
DNA Probes
X Chromosome
Base Pairing
Genes
Mothers
Phenotype
DNA

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Siddique, T., Bartlett, R., Pericak-Vance, M. A., Yamaoka, L., Koh, J., Chen, J., ... Roses, A. D. (1988). Update on the molecular genetics of Duchenne muscular dystrophy. Australian Paediatric Journal, 24(SUPPL. 1), 9-14.

Update on the molecular genetics of Duchenne muscular dystrophy. / Siddique, T.; Bartlett, R.; Pericak-Vance, Margaret A; Yamaoka, L.; Koh, J.; Chen, J.; Hung, W. Y.; Kandt, R.; Roses, A. D.

In: Australian Paediatric Journal, Vol. 24, No. SUPPL. 1, 01.01.1988, p. 9-14.

Research output: Contribution to journalArticle

Siddique, T, Bartlett, R, Pericak-Vance, MA, Yamaoka, L, Koh, J, Chen, J, Hung, WY, Kandt, R & Roses, AD 1988, 'Update on the molecular genetics of Duchenne muscular dystrophy', Australian Paediatric Journal, vol. 24, no. SUPPL. 1, pp. 9-14.
Siddique T, Bartlett R, Pericak-Vance MA, Yamaoka L, Koh J, Chen J et al. Update on the molecular genetics of Duchenne muscular dystrophy. Australian Paediatric Journal. 1988 Jan 1;24(SUPPL. 1):9-14.
Siddique, T. ; Bartlett, R. ; Pericak-Vance, Margaret A ; Yamaoka, L. ; Koh, J. ; Chen, J. ; Hung, W. Y. ; Kandt, R. ; Roses, A. D. / Update on the molecular genetics of Duchenne muscular dystrophy. In: Australian Paediatric Journal. 1988 ; Vol. 24, No. SUPPL. 1. pp. 9-14.
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