© 1992 Oxford University Press
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A YAC contig in Xp21 containing the adrenal hypoplasia congenita and glycerol kinase deficiency genes
ICRF Laboratories, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK 1Molecular Genetics Group, Institute of Molecular Medicine, John Radcliffe Hospital Oxford OX3 9DU, UK 2Laboratoire de Biochimie Génétique, Hôpital Cochin-Port Royal 75014 Paris 3Hôpital St Vincent de Paul 75014 Paris, France 4Mater Misericordiae Mother's Hospital South Brisbane, Queensland 4101, Australia 5Department of Medical Genetics, Duncan Guthrie Institute Glasgow G3 8SJ 6Department of Pathology, University of Cambridge Cambridge CB2 1QP 7Royal Manchester Children's Hospital Pendlebury, Manchester M27 1HA, UK 8Division of Metabolism, Department of Paediatrics, University Children's Hospital Zurich, CH-8032 Zurich, Switzerland
* To whom correspondence should be addressed
+ Present addresses: CRC Human Cancer Genetics Research Group, Department of Pathology, University of Cambridge, Cambridge CB2 IQP
Northem Region Genetics Service, Royal Victoria Infirmary, Newcastle upon Tyne NE2 4AA, UK
¶ Division de Gènètique Mddicale, Centre Medical Universitaire, CR 1211 Geneve 4, Switzerland
Received August 10, 1992; Revised September 4, 1992; Accepted September 4, 1992
The gene loci for adrenal hypoplasia congenita (AHC) and glycerol kinase deficiency (GK) map in Xp21 distal to Duchenne muscular dystrophy (DMD), and proximal to DXS28 (C7), by analysis of patient deletions. We have constructed a yeast artificial chromosome (YAC) contig encompassing a 1.2 Mb region extending distally from DMD, and containing DXS708 (JC-1), the distal junction clone of a patient with GK and DMD. A pulsed-field gel electrophoresis map of the YAC contig identified 3 potential CpG islands. Whole YAC hybridization identified cosmids both for construction of cosmid contigs, and isolation of single copy probes. Thirteen new single copy probes and DXS28 and DXS708 were hybridized on a panel of patients; the deletion mapping indicates that the YAC contig contains both GK and at least part of AHC, and together with the physical map defines a GK critical region of 50–250 kb. In one AHC patient with a cytogenetically detectable deletion we used the new probes to characterize a complex double deletion. Non-overlapping deletions observed in other unrelated AHC patients indicate that the AHC gene is large, extending over at least 200–500 kb. This mapping provides the basis for the identification of the AHC and GK genes.
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