Institut für Humangenetik
Universität Göttingen
Research Group Dr. J. Kohlhase
D-37073 Göttingen
Tel.: 0551/397592 // Fax: 0551/399302 // email: jkohlha@gwdg.de
Diagnostics
Research
Molecular Diagnostics
Townes-Brocks syndrome
SALL1 mutation analysis is offered on a research basis. There will be no charge for the analysis. Please contact me via email (jkohlha@gwdg.de) or FAX (+49-551-39-9303) if you are interested in sending samples. We analyze the SALL1 gene by PCR and direct sequencing. We need either (5-)10 ml EDTA blood or a substantial amount of DNA of patients and parents. Cell lines are also welcome. Samples should be sent by international express airmail (FedEx) at ambient temperature. PLEASE DO NOT SEND FROZEN SAMPLES. Please fill out a customs declaration stating that you are sending human blood samples/ cell lines/ DNA which is non toxic and of no commercial value to ensure that sample delivery is not delayed at customs. Please contact your local post office or Federal Express for details. There is a special envelope for sending blood or tissue specimen. Please send off the specimen on a Friday or Monday to ensure that we will receive them no later than Thursday (maximum two day delivery), and inform me as soon as you are planning to send off the samples. Please give the AWB number of the package for tracking. Please send also a detailed description of the patient's features. We will need this information for our research study. A questionnaire can be downloaded. There is no special consent form needed from our side (for SALL1 analysis) as long as you assure me on informed consent of your patient or parents.
Links
Molecular diagnostics world-wide: http://www.genetests.org
Research
Townes-Brocks syndrome
Townes-Brocks syndrome (TBS) is an autosomal dominant malformation syndrom characterized by imperforate or stenotic anus, dysplastic ears, hearing loss, preaxial polydaktyly and/or triphalangeal thumbs, renal malformations and/ or malfunction. The molecular cause of this disease was unknown until recently when our group identified mutations in the gene SALL1 (a human gene related to the gene spalt of Drosophila melanogaster) in patients with TBS. (Kohlhase J, Wischermann A, Reichenbach H, Froster U, Engel W (1998): Mutations in the SALL1 putative transcription factor gene cause Townes-Brocks Syndrome. Nature Genetics 18, 81-83). Our group is especially interested in genotype-phenotype correlations in TBS. We also study the function and regulation of SALL1. Further reseach interests are functional investigations on other spalt-related genes in mice and man.