Localization of a Gene for Syndactyly Type 1 to Chromosome 2q34-q36

Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. After exclusion of a candidate region previously identified for syndactyly type 2 (synpolydacty...

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Bibliographic Details
Published in:American journal of human genetics 2000-08, Vol.67 (2), p.492-497
Main Authors: Bosse, Kristin, Betz, Regina C., Lee, Young-Ae, Wienker, Thomas F., Reis, André, Kleen, Heidi, Propping, Peter, Cichon, Sven, Nöthen, Markus M.
Format: Article
Language:English
Subjects:
Biological and medical sciences
Chromosome Mapping
Chromosomes, Human, Pair 2 - genetics
Diseases of the osteoarticular system
Female
Germany
Haplotypes - genetics
Humans
Lod Score
Male
Malformations and congenital and or hereditary diseases involving bones. Joint deformations
Medical sciences
Microsatellite Repeats - genetics
Pedigree
Phenotype
Polymorphism, Genetic - genetics
Syndactyly - genetics
Syndactyly - physiopathology
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Summary:Syndactyly type 1 (SD1) is an autosomal dominant limb malformation characterized in its classical form by complete or partial webbing between the third and fourth fingers and/or the second and third toes. After exclusion of a candidate region previously identified for syndactyly type 2 (synpolydactyly), we performed a genomewide linkage analysis in a large German pedigree. We found evidence for linkage of SD1 to polymorphic markers on chromosome 2q34-q36, with a maximum LOD score of 12.40 for marker D2S301. Key recombination events in affected individuals defined a 9.4-cM region between markers D2S2319 and D2S344. The identification of the responsible gene will give further insights into the molecular basis of limb development.
ISSN:0002-9297
1537-6605
DOI:10.1086/303028