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© 1995 Oxford University Press

OTHER

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

Mansoor Sarfarazi*, A.Nurten Akarsu and Bekir Sitki Sayli1

Surgical Research Center, Department of Surgery, University of Connecticut Health Center Farmington, Connecticut, USA 1Department of Medical Biology and Genetics, University of Ankara, Faculty of Medicine Sihhiye, Ankara, Turkey

*To whom correspondence should be addressed

Received April 10, 1995; Revised May 18, 1995; Accepted May 18, 1995

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. 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 - D2S1238 - SPD -(HOXD8/D2S1244) - (D2S300/D2S138) - D2S148 - D2S324 -D2S1384-D2S434 was deduced from meiotic recombination events.


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