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Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma

Item Type:Article
Title:Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
Creators Name:Niemann, S. and Becker-Follmann, J. and Nuernberg, G. and Rueschendorf, F. and Sieweke, N. and Huegens-Penzel, M. and Traupe, H. and Wienker, T.F. and Reis, A. and Mueller, U.
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.
Keywords:Chromosome 1, Paraganglioma, PGL3, Type 3
Source:American Journal of Medical Genetics
ISSN:0148-7299
Publisher:Wiley-Liss
Volume:98
Number:1
Page Range:32-36
Date:1 January 2001
Official Publication:https://doi.org/10.1002/1096-8628(20010101)98:1<32::AID-AJMG1004>3.0.CO;2-8
PubMed:View item in PubMed

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