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Assignment of PGL3 to chromosome 1 (q21‐q23) in a family with autosomal dominant non‐chromaffin paraganglioma |
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| Authors: | Stephan Niemann Johannes Becker‐Follmann Gudrun Nürnberg Franz Rüschendorf Nicole Sieweke Monika Hügens‐Penzel Horst Traupe Thomas F. Wienker André Reis Ulrich Müller |
| Affiliation: | 1. Institut für Humangenetik, Justus‐Liebig‐Universität, Giessen, Germany;2. Microsatellite‐Center, Max Delbrück Center for Molecular Medicine, Berlin, Germany;3. Neurologische Klinik, Justus‐Liebig‐Universität, Giessen, Germany;4. Abteilung für Neuroradiologie, Justus‐Liebig‐Universität, Giessen, Germany;5. Institut für Medizinische Statistik, Universität Bonn, Bonn, Germany |
| Abstract: | We performed a whole genome scan in a family with maternally transmitted paraganglioma (PGL3). The family included five patients with histologically proven paraganglioma and one patient with imaging findings consistent with a paraganglioma. In addition, there were 33 clinically unaffected family members. Of these eight could be examined by magnetic resonance imaging. Our investigations indicate that PGL3 is located in 1q21‐q23 for several reasons: 1) two‐point linkage analysis yielded the highest LOD score of 2.25 at 1q21‐q23 (marker D1S2675); 2) haplotype analysis was most consistent for 1q21‐q23 markers; and 3) the locus was excluded from more than 97% of the genome using a total of 381 highly polymorphic markers. © 2001 Wiley‐Liss, Inc. |
| Keywords: | paraganglioma type 3 PGL3 chromosome 1 |