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Mapping of an autosomal dominant gene for Dupuytren's contracture to chromosome 16q in a Swedish family
Umeå University, Faculty of Medicine, Department of Surgical and Perioperative Sciences, Hand Surgery. Department of Plastic Surgery and Department of Orthopedic Surgery, University of Nebraska, Omaha, NE, USA.
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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) PublishedText
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 D16S419 and D16S3032 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.

Place, publisher, year, edition, pages
Oxford: Blackwell Publishing, 2005. Vol. 68, no 5, 424-429 p.
Keyword [en]
Dupuytren contracture, gene mapping, human genetics, microsatellite
National Category
Medical Genetics
Identifiers
URN: urn:nbn:se:umu:diva-120394DOI: 10.1111/j.1399-0004.2005.00504.xISI: 000232392000007PubMedID: 16207209OAI: oai:DiVA.org:umu-120394DiVA: diva2:936250
Available from: 2016-06-13 Created: 2016-05-16 Last updated: 2016-06-13Bibliographically approved

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Nyström, ÅkeMossberg, I
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