title: Identification of new markers in Xp21 between DXS28 (C7) and DMD.
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.
authors.affiliation: Institute for Molecular Genetics, Baylor College of Medicine, Houston, Texas 77030.
authors.forename: K C
authors.initials: KC
authors.lastname: Worley
authors.forename: J A
authors.initials: JA
authors.lastname: Towbin
authors.forename: X M
authors.initials: XM
authors.lastname: Zhu
authors.forename: D F
authors.initials: DF
authors.lastname: Barker
authors.forename: A
authors.initials: A
authors.lastname: Ballabio
authors.forename: J
authors.initials: J
authors.lastname: Chamberlain
authors.forename: L G
authors.initials: LG
authors.lastname: Biesecker
authors.forename: S L
authors.initials: SL
authors.lastname: Blethen
authors.forename: P
authors.initials: P
authors.lastname: Brosnan
authors.forename: J E
authors.initials: JE
authors.lastname: Fox
mesh_terms: D001483:Base Sequence; D015139:Blotting, Southern; D002874:Chromosome Mapping; D015825:Chromosomes, Fungal; D004247:DNA; D015723:Gene Library; D005819:Genetic Markers; D015894:Genome, Human; D006801:Humans; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009841:Oligonucleotides; D010641:Phenotype; D016133:Polymerase Chain Reaction; D014960:X Chromosome
chemical_list: D005819:Genetic Markers; D009841:Oligonucleotides; D004247:DNA