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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Localization of the syndactyly type II (synpolydactyly) locus to 2q31 region and identification of tight linkage to HOXD8 intragenic marker.

Syndactyly type II (SynPolyDactyly; SPD) is an autosomal dominant condition with incomplete penetrance and variable expressivity. Sixty-two meioses from a kindred with 425 individuals were used to map the SPD locus to 2q31 region, approximately 1.7 cM (Lod score = 12.96) centromeric to HOXD8 intragenic marker. Other homeobox-containing genes in this region have previously been ordered as cen-DLX1/DLX2-EVX2-(5' --> HOXD13..HOXD8.HOXD1 --> 3')-tel')-tel. A single recombinant with HOXD8 excluded the most 3' end of HOXD cluster as a candidate site for SPD, but a mutation in the 5' end of HOXD cluster, especially in HOXD13, EVX2 or DLX2/DLX1, may still be responsible for this phenotype. An updated order of D2S142-D2S111-(D2S335/D2S333)-D2S326-D2 S1238-SPD- (HOXD8/D2S1244)-(D2S300/D2S138)-D2S148- D2S324- D2S1384-D2S434 [sequence:see text] was deduced from meiotic recombination events.[1]


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