A Physical and Transcriptional Map of the Preaxial Polydactyly Locus on Chromosome 7q36

• Published in: Genomics (San Diego, Calif.) Vol. 57; no. 3; pp. 342 - 351
• Main Authors: Heus, Henk C., Hing, Anne, van Baren, Marijke J., Joosse, Marijke, Breedveld, Guido J., Wang, Jen C., Burgess, Andrea, Donnis-Keller, Helen, Berglund, Cathleen, Zguricas, Julia, Scherer, Stephen W., Rommens, Johanna M., Oostra, Ben A., Heutink, Peter
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01.05.1999; Elsevier
• Subjects: Base Sequence; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 7; Cloning, Molecular; Contig Mapping; Diseases of the osteoarticular system; DNA, Complementary; Exons; Humans; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Molecular Sequence Data; Polydactyly - genetics; Transcription, Genetic; Genetic mapping; Human; Genetic marker; Family study; Diseases of the osteoarticular system; Finger; Dysostosis; Chromosome C7; Congenital disease; Gene; Disease of the hand; Malformation; Polydactyly; Upper limb; Physical map; Polymorphism
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.1999.5796

Preaxial polydactyly is a congenital hand malformation that includes duplicated thumbs, various forms of triphalangeal thumbs, and duplications of the index finger. A locus for preaxial polydactyly has been mapped to a region of 1.9 cM on chromosome 7q36 between polymorphic markers D7S550 and D7S2423. We constructed a detailed physical map of the preaxial polydactyly candidate region. With a combination of methods we identified and positioned 11 transcripts within this map. By recombination analysis on families with preaxial polydactyly, using newly developed polymorphic markers, we were able to reduce the candidate region to approximately 450 kb. The homeobox geneHLXB9,a putative receptor C7orf2, and two transcripts of unknown function, C7orf3 and C7orf4, map in the refined candidate region and have been subjected to mutation analysis in individuals with preaxial polydactyly.