Identification of Duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Mspl polymorphisms

N. G. Laing, A. P. Walker, P. A. Akkari, D. C. Chandler, M. G. Layton, M. E. Mears, T. Yamada, R. J. Bartlett, Margaret A Pericak-Vance, W. Y. Hung, M. C. Wapenaar, G. Van Ommen, A. D. Roses, B. A. Kakulas

Research output: Contribution to journalArticle

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Abstract

The majority of Duchenne and Becker muscular dystrophy cases are caused by deletions observable in Southern blots with cDNA probes for the gene. When the deletion includes polymorphic probes, they may be used to determine carrier status by deletion segregation analysis: non-inheritance of parental alleles, or heterozygosity. The polymorphic genomic probe P20 is deleted in a large percentage of probands. P20 hybridizes with two constant fragments by 6.7 and 0.8 kb in Taql digests. In a number of probands, only the larger P20 Taql fragment is deleted. This study demonstrates that this fragment corresponds with the polymorphic EcoRV and Mspl fragments of P20. Families in which the upper Taql fragment is deleted may be screened for carrier status using non-inheritance of parental alleles or heterozygosity of P20 in EcoRV or Mspl digests.

Original languageEnglish
Pages (from-to)63-67
Number of pages5
JournalPrenatal Diagnosis
Volume11
Issue number1
StatePublished - May 3 1991
Externally publishedYes

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Duchenne Muscular Dystrophy
Alleles
Southern Blotting
Complementary DNA
Genes

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynecology

Cite this

Laing, N. G., Walker, A. P., Akkari, P. A., Chandler, D. C., Layton, M. G., Mears, M. E., ... Kakulas, B. A. (1991). Identification of Duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Mspl polymorphisms. Prenatal Diagnosis, 11(1), 63-67.

Identification of Duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Mspl polymorphisms. / Laing, N. G.; Walker, A. P.; Akkari, P. A.; Chandler, D. C.; Layton, M. G.; Mears, M. E.; Yamada, T.; Bartlett, R. J.; Pericak-Vance, Margaret A; Hung, W. Y.; Wapenaar, M. C.; Van Ommen, G.; Roses, A. D.; Kakulas, B. A.

In: Prenatal Diagnosis, Vol. 11, No. 1, 03.05.1991, p. 63-67.

Research output: Contribution to journalArticle

Laing, NG, Walker, AP, Akkari, PA, Chandler, DC, Layton, MG, Mears, ME, Yamada, T, Bartlett, RJ, Pericak-Vance, MA, Hung, WY, Wapenaar, MC, Van Ommen, G, Roses, AD & Kakulas, BA 1991, 'Identification of Duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Mspl polymorphisms', Prenatal Diagnosis, vol. 11, no. 1, pp. 63-67.
Laing, N. G. ; Walker, A. P. ; Akkari, P. A. ; Chandler, D. C. ; Layton, M. G. ; Mears, M. E. ; Yamada, T. ; Bartlett, R. J. ; Pericak-Vance, Margaret A ; Hung, W. Y. ; Wapenaar, M. C. ; Van Ommen, G. ; Roses, A. D. ; Kakulas, B. A. / Identification of Duchenne muscular dystrophy genomic probe P20 constant Taq1 fragment corresponding to the EcoRV and Mspl polymorphisms. In: Prenatal Diagnosis. 1991 ; Vol. 11, No. 1. pp. 63-67.
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