The human homeobox gene HOX7 maps to chromosome 4p16.1 and may be implicated in Wolf-Hirschhorn syndrome |
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Authors: | Alasdair Ivens Nora Flavin Robert Williamson Michael Dixon Gillian Bates Margaret Buckingham Benoit Robert |
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Affiliation: | (1) Department of Clinical Genetics, Oulu University Central Hospital, University of Oulu, Kajaanintie 50, SF-90220 Oulu, Finland;(2) Biocenter and Department of Clinical Chemistry, University of Oulu, Kajaanintie 50, SF-90220 Oulu, Finland;(3) Institut für Humangenetik der Universität, Bahnhofstrasse 7a, D-3550 Marburg, Federal Republic of Germany |
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Abstract: | Summary The gene encoding human 17beta-hydroxy-steroid dehydrogenase (17-HSD; EC 1.1.1.62) is assigned to chromosome 17 by Southern blotting analyses of panels of human x rodent somatic cell hybrids and independently to 17q12–q21 using chromosomal in situ hybridization. A search for physical linkage between 17-HSD and the proto-oncogenes, THRA1 and ERBB2 (both reported to be located in this region of chromosome 17) was performed by pulsed-field gel electrophoresis (PFGE) using several rare-cutting restriction endonucleases. Because all three genes hybridized to DNA fragments of different lengths it seems unlikely that the gene for 17-HSD is located very close to THRA1 and ERBB2. Further evidence for this assumption was obtained from the absence of any coamplification of the 17-HSD gene in 9 breast tumors with amplification of the ERBB2 gene. Analyses of Southern blots of ScaI-digested DNAs from unrelated individuals from Northern Finland revealed a relatively infrequent diallelic restriction fragment length polymorphism, the allele frequencies of which were 0.04 (A1) and 0.96 (A2). |
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