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. 1994 Dec;55(6):1153-8.

A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9

M Bamshad  1 , W S Watkins, R K Zenger, J F Bohnsack, J C Carey, B Otterud, P A Krakowiak, M Robertson, L B Jorde
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A gene for distal arthrogryposis type I maps to the pericentromeric region of chromosome 9

M Bamshad et al. Am J Hum Genet. 1994 Dec.

Abstract

Club foot is one of the most common human congenital malformations. Distal arthrogryposis type I (DA-1) is a frequent cause of dominantly inherited club foot. Performing a genomewide search using short tandem repeat (STR) polymorphisms, we have mapped a DA-1 gene to the pericentromeric region of chromosome 9 in a large kindred. Linkage analysis has generated a positive lod score of 5.90 at theta = 0, with the marker GS-4. Multiple recombinants bracketing the region have been identified. Analysis of an additional family demonstrated no linkage to the same locus, indicating likely locus heterogeneity. Of the autosomal congenital contracture disorders causing positional foot deformities, this is the first to be mapped.

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References

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