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Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family
Center for Genomic Sciences, Allegheny Singer Research Institute, 320 East North Avenue, Pittsburgh, PA 15212, United States, Department of Human Genetics, Drexel University College of Medicine, Philadelphia, PA, United States.
Department of Plastic Surgery, University of Nebraska, Omaha, NE, United States, Department of Orthopedic Surgery, University of Nebraska, Omaha, NE, United States, Department of Plastic Surgery, University of Umea, Umea, Sweden.
Center for Genomic Sciences, Allegheny Singer Research Institute, 320 East North Avenue, Pittsburgh, PA 15212, United States.
Linköping University.
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2005 (English)In: Clinical Genetics, ISSN 0009-9163, E-ISSN 1399-0004, Vol. 68, no 5, 424-429 p.Article in journal (Refereed) Published
Abstract [en]

Dupuytren's contracture (DC) (OMIM 126900) is the most common connective tissue disease of mankind and has both heritable and sporadic forms. The inherited form is most frequently observed among the xanthochroi peoples of Northern Europe where its most common manifestations are thickening of the palmar fascia and contracture of the fingers. We ascertained a five-generation Swedish family in which DC is inherited in an autosomal dominant manner with high, but incomplete, penetrance by the end of the fifth decade. Blood was collected from all affected and informative unaffected family members for the performance of a genome-wide scan at a resolution of approximately 8 cM for all autosomes. Linkage was established to a single 6 cM region between markers D 16S419 and D 16S3032 on chromosome 16. A maximal two-point logarithm of odds (LOD) score of 3.18 was achieved at microsatellite marker D16S415 with four other markers in the region producing LODs of > 1.5. © Blackwell Munksgaard, 2005.

Place, publisher, year, edition, pages
2005. Vol. 68, no 5, 424-429 p.
Keyword [en]
Dupuytren contracture, Gene mapping, Human genetics, Microsatellite
National Category
Natural Sciences
Identifiers
URN: urn:nbn:se:liu:diva-50397DOI: 10.1111/j.1399-0004.2005.00504.xOAI: oai:DiVA.org:liu-50397DiVA: diva2:271293
Available from: 2009-10-11 Created: 2009-10-11 Last updated: 2017-12-12

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