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

TitleIdentification of new markers in Xp21 between DXS28 (C7) and DMD.
Publication TypeJournal Article
Year of Publication1992
AuthorsWorley, KC, Towbin, JA, Zhu, XM, Barker, DF, Ballabio, A, Chamberlain, J, Biesecker, LG, Blethen, SL, Brosnan, P, Fox, JE
Date Published1992 Aug
KeywordsBase Sequence, Blotting, Southern, Chromosome Mapping, Chromosomes, Fungal, DNA, Gene Library, Genetic Markers, Genome, Human, Humans, Molecular Sequence Data, Muscular Dystrophies, Oligonucleotides, Phenotype, Polymerase Chain Reaction, X Chromosome

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.

Alternate JournalGenomics
PubMed ID1505987
Grant List5 P30 HD24064 / HD / NICHD NIH HHS / United States
5 P30 HD27823 / HD / NICHD NIH HHS / United States
5 R01 HD22563 / HD / NICHD NIH HHS / United States

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