A YAC contig spanning the hypophosphatemic rickets disease gene (HYP) candidate region

Journal Article · Sun May 01 00:00:00 EDT 1994 · Genomics; (United States)

DOI:https://doi.org/10.1006/geno.1994.1247· OSTI ID:6758228

Francis, F; Hamvas, R M.J.; Lehrach, H ^[1]; Rowe, P S.N.; O'Riordan, J L.H. ^[2]; Econs, M J; Drezner, M K ^[3]; See, C G; Benham, F ^[4]

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1. Genome Analysis Lab., London (United Kingdom)
2. Middlesex Hospital, London (United Kingdom)
3. Duke Univ., Durham, NC (United States)
4. Univ. College London (United Kingdom)

Dominant X-linked hypophosphatemic rickets (HYP) is the most common form of familial rickets. Linkage studies have localized the gene for this disorder to Xp22.1 between the markers DXS365 and DXS274, a region estimated to be approximately 3.5 cM. The authors have constructed a 1.5-Mb YAC contig encompassing this region by hybridization screening of high-density YAC clone filters. Rapid chromosome walking was achieved by direct hybridization of a pool of Alu-PCR products derived from a YAC containing DXS365 to the filter grids. Overlaps between YACs in the contig were estimated by hybridization of end probes to YAC digest blots and by analysis of cosmid fingerprints obtained by hybridization of YAC inserts to a flow-sorted chromosome X cosmid library. All YACs in the contig have been verified by fluorescence in situ hybridization. Several YACs spanning the HYP gene candidate region were selected for further analysis by rare-cutter enzyme digestion and pulsed-field gel electrophoresis. The authors estimate that the markers flanking the disease region, DXS365 and DXS274, are less than 1 Mb apart. This clone contig map provides an essential resource for the isolation of the HYP gene. 47 refs., 5 figs., 2 tabs.

• OSTI ID: 6758228
• Journal Information: Genomics; (United States), Vol. 21:1; ISSN 0888-7543
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HUMAN X CHROMOSOME
GENETIC MAPPING
RICKETS
ETIOLOGY
DNA HYBRIDIZATION
BIOTECHNOLOGY
CHROMOSOMES
DISEASES
GENETIC ENGINEERING
HETEROCHROMOSOMES
HUMAN CHROMOSOMES
HYBRIDIZATION
MAPPING
METABOLIC DISEASES
NUCLEIC ACID HYBRIDIZATION
SKELETAL DISEASES
X CHROMOSOME
550400* - Genetics