TY - JOUR
T1 - A physical and transcriptional map of the preaxial polydactyly locus on chromosome 7q36
AU - Heus, Henk C.
AU - Hing, Anne
AU - Van Baren, Marijke J.
AU - Joosse, Marijke
AU - Breedveld, Guido J.
AU - Wang, Jen C.
AU - Burgess, Andrea
AU - Donnis-Keller, Helen
AU - Berglund, Cathleen
AU - Zguricas, Julia
AU - Scherer, Stephen W.
AU - Rommens, Johanna M.
AU - Oostra, Ben A.
AU - Heutink, Peter
N1 - Funding Information:
We thank Dr. Johan den Dunnen for kindly providing the sCOGH2 vector and Prof. Dr. Hans Galjaard and the “Stichting Klinische Genetica Rotterdam” for their continuous support. This work was in part funded by the Netherlands Organization for Scientific Research (NWO).
PY - 1999/5/1
Y1 - 1999/5/1
N2 - 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 gene HLXB9, 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.
AB - 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 gene HLXB9, 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.
UR - https://www.scopus.com/pages/publications/0033135510
U2 - 10.1006/geno.1999.5796
DO - 10.1006/geno.1999.5796
M3 - Article
C2 - 10329000
AN - SCOPUS:0033135510
SN - 0888-7543
VL - 57
SP - 342
EP - 351
JO - Genomics
JF - Genomics
IS - 3
ER -