Identification of new markers in Xp21 between DXS28 (C7) and DMD

K. C. Worley, Jeffrey Towbin, X. M. Zhu, D. F. Barker, A. Ballabio, J. Chamberlain, L. G. Biesecker, S. L. Blethen, P. Brosnan, J. E. Fox, W. B. Rizzo, G. Romeo, N. Sakuragawa, W. K. Seltzer, S. Yamaguchi, E. R.B. McCabe

Research output: Contribution to journalArticle

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Abstract

Characterization of Xp21 distal to Duchenne muscular dystrophy (DMD) in the region containing the genes for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GKD) has been limited due to a paucity of probes. Two probes were localized between DXS28 (C7) and AHC, the yeast artificial chromosome insert YHX39 (DXS727) and the polymorphic phage clone QST59 (DXS319). A genomic clone, FT1 (DXS726), 3′ to DMD, was also characterized. Portions of the three probes were sequenced and primer pairs were generated to amplify a sequence-tagged site within each probe. Amplification of DNA from patients confirmed the deletion results obtained by Southern blot analysis, and these three sequence-tagged sites were successfully combined for triplex PCR. In addition to facilitating molecular genetic diagnosis in Xp21, these probes can be used to identify additional YACs and other probes to further increase the genomic information and diagnostic capabilities in this region.

Original languageEnglish (US)
Pages (from-to)957-961
Number of pages5
JournalGenomics
Volume13
Issue number4
DOIs
StatePublished - Jan 1 1992
Externally publishedYes

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Sequence Tagged Sites
Duchenne Muscular Dystrophy
Clone Cells
Yeast Artificial Chromosomes
Multiplex Polymerase Chain Reaction
Southern Blotting
Bacteriophages
Molecular Biology
DNA
Genes
X-linked adrenal hypoplasia congenita
Hyperglycerolemia

All Science Journal Classification (ASJC) codes

  • Genetics

Cite this

Worley, K. C., Towbin, J., Zhu, X. M., Barker, D. F., Ballabio, A., Chamberlain, J., ... McCabe, E. R. B. (1992). Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics, 13(4), 957-961. https://doi.org/10.1016/0888-7543(92)90007-F

Identification of new markers in Xp21 between DXS28 (C7) and DMD. / Worley, K. C.; Towbin, Jeffrey; Zhu, X. M.; Barker, D. F.; Ballabio, A.; Chamberlain, J.; Biesecker, L. G.; Blethen, S. L.; Brosnan, P.; Fox, J. E.; Rizzo, W. B.; Romeo, G.; Sakuragawa, N.; Seltzer, W. K.; Yamaguchi, S.; McCabe, E. R.B.

In: Genomics, Vol. 13, No. 4, 01.01.1992, p. 957-961.

Research output: Contribution to journalArticle

Worley, KC, Towbin, J, Zhu, XM, Barker, DF, Ballabio, A, Chamberlain, J, Biesecker, LG, Blethen, SL, Brosnan, P, Fox, JE, Rizzo, WB, Romeo, G, Sakuragawa, N, Seltzer, WK, Yamaguchi, S & McCabe, ERB 1992, 'Identification of new markers in Xp21 between DXS28 (C7) and DMD', Genomics, vol. 13, no. 4, pp. 957-961. https://doi.org/10.1016/0888-7543(92)90007-F
Worley KC, Towbin J, Zhu XM, Barker DF, Ballabio A, Chamberlain J et al. Identification of new markers in Xp21 between DXS28 (C7) and DMD. Genomics. 1992 Jan 1;13(4):957-961. https://doi.org/10.1016/0888-7543(92)90007-F
Worley, K. C. ; Towbin, Jeffrey ; Zhu, X. M. ; Barker, D. F. ; Ballabio, A. ; Chamberlain, J. ; Biesecker, L. G. ; Blethen, S. L. ; Brosnan, P. ; Fox, J. E. ; Rizzo, W. B. ; Romeo, G. ; Sakuragawa, N. ; Seltzer, W. K. ; Yamaguchi, S. ; McCabe, E. R.B. / Identification of new markers in Xp21 between DXS28 (C7) and DMD. In: Genomics. 1992 ; Vol. 13, No. 4. pp. 957-961.
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abstract = "Characterization of Xp21 distal to Duchenne muscular dystrophy (DMD) in the region containing the genes for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GKD) has been limited due to a paucity of probes. Two probes were localized between DXS28 (C7) and AHC, the yeast artificial chromosome insert YHX39 (DXS727) and the polymorphic phage clone QST59 (DXS319). A genomic clone, FT1 (DXS726), 3′ to DMD, was also characterized. Portions of the three probes were sequenced and primer pairs were generated to amplify a sequence-tagged site within each probe. Amplification of DNA from patients confirmed the deletion results obtained by Southern blot analysis, and these three sequence-tagged sites were successfully combined for triplex PCR. In addition to facilitating molecular genetic diagnosis in Xp21, these probes can be used to identify additional YACs and other probes to further increase the genomic information and diagnostic capabilities in this region.",
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