Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.

TitleYeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21.
Publication TypeJournal Article
Year of Publication1993
AuthorsWorley, KC, Ellison, KA, Zhang, YH, Wang, DF, Mason, J, Roth, EJ, Adams, V, Fogt, DD, Zhu, XM, Towbin, JA
JournalGenomics
Volume16
Issue2
Pagination407-16
Date Published1993 May
ISSN0888-7543
KeywordsAdrenal Insufficiency, Base Sequence, Chromosome Mapping, Chromosomes, Fungal, Gene Library, Genetic Markers, Genome, Human, Glycerol Kinase, Humans, Molecular Sequence Data, Polymerase Chain Reaction, X Chromosome
Abstract

The adrenal hypoplasia congenita (AHC) and glycerol kinase (GK) loci are telomeric to the Duchenne muscular dystrophy locus in Xp21. We developed a pair of yeast artificial chromosome (YAC) contigs spanning at least 1.2 Mb and encompassing the region from the telomeric end of the Duchenne muscular dystrophy (DMD) locus to beyond YHX39 (DXS727), including the genes for AHC and GK. The centromeric contig consists of 13 YACs reaching more than 600 kb from DMD through GK. The telomeric contig group consists of 8 YACs containing more than 600 kb including the markers YHX39 (DXS727) and QST-59 (DXS319). Patient deletion breakpoints in the region of the two YAC contigs define at least eight intervals, and seven deletion breakpoints are contained within these contigs. In addition to the probes developed from YAC ends, we have mapped eight Alu-PCR probes amplified from a radiation-reduced somatic cell hybrid, two anonymous DNA probes, and one Alu-PCR product amplified from a cosmid end, for a total of 26 new markers within this region of 2 Mb or less. One YAC in the centromeric contig contains an insert encompassing the minimum interval for GK deficiency defined by patient deletion breakpoints, and this clone includes all or part of the GK gene.

Alternate JournalGenomics
PubMed ID8314578
Grant List1 P30 HD24064 / HD / NICHD NIH HHS / United States
1 P30 HD2723 / HD / NICHD NIH HHS / United States
1 R01 HD22563 / HD / NICHD NIH HHS / United States