Journal article
Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414
American journal of human genetics, Vol.56(1), pp.310-318
01/1995
PMCID: PMC1801300
PMID: 7825592
Abstract
Van der Woude syndrome (VWS) is an autosomal dominant craniofacial disorder characterized by lip pits, clefting of the primary or secondary palate, and hypodontia. The gene has been localized, by RFLP-based linkage studies, to region 1q32-41 between D1S65-REN and D1S65-TGFB2. In this study we report the linkage analysis of 15 VWS families, using 18 microsatellite markers. Multipoint linkage analysis places the gene, with significant odds of 2,344:1, in a 4.1-cM interval flanked by D1S245 and D1S414. Two-point linkage analysis demonstrates close linkage of VWS with D1S205 (lod score [Z] = 24.41 at theta = .00) and with D1S491 (Z = 21.23 at theta = .00). The results revise the previous assignment of the VWS locus and show in an integrated map of the region 1q32-42 that the VWS gene resides more distally than previously suggested. When information about heterozygosity of the closely linked marker D1S491 in the affected members of the VWS family with a microdeletion is taken into account, the VWS critical region can be further narrowed, to the 3.6-cM interval between D1S491 and D1S414.
Details
- Title: Subtitle
- Microsatellite-based fine mapping of the Van der Woude syndrome locus to an interval of 4.1 cM between D1S245 and D1S414
- Creators
- A Sander - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyJ C Murray - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyT Scherpbier-Heddema - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyK H Buetow - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyJ Weissenbach - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyM Zingg - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyK Ludwig - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, GermanyR Schmelzle - Clinic of Oral-Maxillofacial Surgery, Nordwestdeutsche Kieferklinik, University of Hamburg, Germany
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.56(1), pp.310-318
- PMID
- 7825592
- PMCID
- PMC1801300
- NLM abbreviation
- Am J Hum Genet
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 01/1995
- Academic Unit
- Anatomy and Cell Biology; Stead Family Department of Pediatrics; Epidemiology; Pediatric Dentistry; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984025427502771
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