Journal article
Genetic and physical mapping around the properdin P gene
Genomics (San Diego, Calif.), Vol.11(4), pp.991-996
1991
DOI: 10.1016/0888-7543(91)90024-9
PMID: 1783405
Abstract
A CA repeat has been found on the human X chromosome within 16 kb of the gene encoding properdin P factor (PFC) and has been shown to be a highly informative marker. Two more polymorphic CA repeats were found in a cosmid containing DXS228. The CA repeats, and other markers from proximal Xp, were mapped genetically in CEPH families and the likely order of markers was established as Xpter-(DXS7, MAO-A, DXS228)-(PFC, DXS426)-(TIMP, OATL1)-DXS255-Xcen. This places PFC in the region Xp11.3–Xp11.23, thus refining previous
in situ hybridization data. Two yeast artificial chromosomes (YACs) (440 and 390 kb) contain both PFC and DXS426, and one of them (440 kb) also contains TIMP. This confirms the genetic order TIMP-(PFC, DXS426). PFC and TIMP are located on the same 100-kb
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fragment of the 440-kb YAC. Given the genetic orientation of TIMP and (PFC, DXS426), this YAC can now serve as a starting point for directional walking toward disease genes located in Xp11.3–Xp11.2 such as retinitis pigmentosa (RP2) and Wiskott-Aldrich syndrome.
Details
- Title: Subtitle
- Genetic and physical mapping around the properdin P gene
- Creators
- M.P Coleman - Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, EnglandJ.C Murray - Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, EnglandH.F Willard - Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USAK.F Nolan - MRC Immunochemistry Unit, Department of Biochemistry, University of Oxford, South Parks Road, Oxford OX1 3QU EnglandK.B.M Reid - Department of Genetics, Stanford University School of Medicine, Stanford, California 94305, USAD.J Blake - Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, EnglandS Lindsay - Department of Human Genetics, University of Newcastle-upon-Tyne, Newcastle NE2 4AA EnglandS.S Bhattacharya - Department of Human Genetics, University of Newcastle-upon-Tyne, Newcastle NE2 4AA EnglandA Wright - MRC Human Genetics Unit, Western General Hospital, Crewe Road, Edinburgh EH4 2XU ScotlandK.E Davies - Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford OX3 9DU, England
- Resource Type
- Journal article
- Publication Details
- Genomics (San Diego, Calif.), Vol.11(4), pp.991-996
- DOI
- 10.1016/0888-7543(91)90024-9
- PMID
- 1783405
- NLM abbreviation
- Genomics
- ISSN
- 0888-7543
- eISSN
- 1089-8646
- Publisher
- Elsevier Inc
- Language
- English
- Date published
- 1991
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025668202771
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