A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region

Fiona Francis, Peter S N Rowe, Michael Econs, Chee Gee See, Frances Benham, Jeffrey L H O'Riordan, Marc K. Drezner, Renata M J Hamvas, Hans Lehrach

Research output: Contribution to journalArticle

25 Citations (Scopus)

Abstract

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. We 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. We 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.

Original languageEnglish (US)
Pages (from-to)229-237
Number of pages9
JournalGenomics
Volume21
Issue number1
DOIs
StatePublished - May 1 1994
Externally publishedYes

Fingerprint

Hypophosphatemic Rickets
Cosmids
Chromosome Walking
Clone Cells
Familial Hypophosphatemic Rickets
Genes
Rickets
Pulsed Field Gel Electrophoresis
Dermatoglyphics
X Chromosome
Fluorescence In Situ Hybridization
Digestion
Polymerase Chain Reaction
Enzymes

ASJC Scopus subject areas

  • Genetics

Cite this

Francis, F., Rowe, P. S. N., Econs, M., See, C. G., Benham, F., O'Riordan, J. L. H., ... Lehrach, H. (1994). A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region. Genomics, 21(1), 229-237. https://doi.org/10.1006/geno.1994.1247

A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region. / Francis, Fiona; Rowe, Peter S N; Econs, Michael; See, Chee Gee; Benham, Frances; O'Riordan, Jeffrey L H; Drezner, Marc K.; Hamvas, Renata M J; Lehrach, Hans.

In: Genomics, Vol. 21, No. 1, 01.05.1994, p. 229-237.

Research output: Contribution to journalArticle

Francis, F, Rowe, PSN, Econs, M, See, CG, Benham, F, O'Riordan, JLH, Drezner, MK, Hamvas, RMJ & Lehrach, H 1994, 'A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region', Genomics, vol. 21, no. 1, pp. 229-237. https://doi.org/10.1006/geno.1994.1247
Francis, Fiona ; Rowe, Peter S N ; Econs, Michael ; See, Chee Gee ; Benham, Frances ; O'Riordan, Jeffrey L H ; Drezner, Marc K. ; Hamvas, Renata M J ; Lehrach, Hans. / A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region. In: Genomics. 1994 ; Vol. 21, No. 1. pp. 229-237.
@article{f88dc9540cd04012bb0dbd70c235f751,
title = "A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region",
abstract = "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. We 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. We 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.",
author = "Fiona Francis and Rowe, {Peter S N} and Michael Econs and See, {Chee Gee} and Frances Benham and O'Riordan, {Jeffrey L H} and Drezner, {Marc K.} and Hamvas, {Renata M J} and Hans Lehrach",
year = "1994",
month = "5",
day = "1",
doi = "10.1006/geno.1994.1247",
language = "English (US)",
volume = "21",
pages = "229--237",
journal = "Genomics",
issn = "0888-7543",
publisher = "Academic Press Inc.",
number = "1",

}

TY - JOUR

T1 - A YAC Contig Spanning the Hypophosphatemic Rickets Disease Gene (HYP) Candidate Region

AU - Francis, Fiona

AU - Rowe, Peter S N

AU - Econs, Michael

AU - See, Chee Gee

AU - Benham, Frances

AU - O'Riordan, Jeffrey L H

AU - Drezner, Marc K.

AU - Hamvas, Renata M J

AU - Lehrach, Hans

PY - 1994/5/1

Y1 - 1994/5/1

N2 - 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. We 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. We 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.

AB - 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. We 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. We 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.

UR - http://www.scopus.com/inward/record.url?scp=0028361036&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0028361036&partnerID=8YFLogxK

U2 - 10.1006/geno.1994.1247

DO - 10.1006/geno.1994.1247

M3 - Article

VL - 21

SP - 229

EP - 237

JO - Genomics

JF - Genomics

SN - 0888-7543

IS - 1

ER -