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

Publication ,  Journal Article
Laing, NG; Walker, AP; Akkari, PA; Chandler, DC; Layton, MG; Mears, ME; Yamada, T; Bartlett, RJ; Pericak-Vance, MA; Hung, WY
Published in: Prenat Diagn
January 1991

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 of 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.

Duke Scholars

Published In

Prenat Diagn

DOI

ISSN

0197-3851

Publication Date

January 1991

Volume

11

Issue

1

Start / End Page

63 / 67

Location

England

Related Subject Headings

  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Genetic
  • Obstetrics & Reproductive Medicine
  • Muscular Dystrophies
  • In Vitro Techniques
  • Humans
  • Genetic Carrier Screening
  • Deoxyribonucleases, Type II Site-Specific
  • Deoxyribonuclease HpaII
  • DNA Probes
 

Citation

APA
Chicago
ICMJE
MLA
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Laing, N. G., Walker, A. P., Akkari, P. A., Chandler, D. C., Layton, M. G., Mears, M. E., … Hung, W. Y. (1991). Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms. Prenat Diagn, 11(1), 63–67. https://doi.org/10.1002/pd.1970110112
Laing, N. G., A. P. Walker, P. A. Akkari, D. C. Chandler, M. G. Layton, M. E. Mears, T. Yamada, R. J. Bartlett, M. A. Pericak-Vance, and W. Y. Hung. “Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms.Prenat Diagn 11, no. 1 (January 1991): 63–67. https://doi.org/10.1002/pd.1970110112.
Laing NG, Walker AP, Akkari PA, Chandler DC, Layton MG, Mears ME, et al. Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms. Prenat Diagn. 1991 Jan;11(1):63–7.
Laing, N. G., et al. “Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms.Prenat Diagn, vol. 11, no. 1, Jan. 1991, pp. 63–67. Pubmed, doi:10.1002/pd.1970110112.
Laing NG, Walker AP, Akkari PA, Chandler DC, Layton MG, Mears ME, Yamada T, Bartlett RJ, Pericak-Vance MA, Hung WY. Identification of Duchenne muscular dystrophy genomic probe P20 constant Taql fragment corresponding to the EcoRV and Mspl polymorphisms. Prenat Diagn. 1991 Jan;11(1):63–67.
Journal cover image

Published In

Prenat Diagn

DOI

ISSN

0197-3851

Publication Date

January 1991

Volume

11

Issue

1

Start / End Page

63 / 67

Location

England

Related Subject Headings

  • Polymorphism, Restriction Fragment Length
  • Polymorphism, Genetic
  • Obstetrics & Reproductive Medicine
  • Muscular Dystrophies
  • In Vitro Techniques
  • Humans
  • Genetic Carrier Screening
  • Deoxyribonucleases, Type II Site-Specific
  • Deoxyribonuclease HpaII
  • DNA Probes