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

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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., Becker-Follmann, J., Nuernberg, G., Rueschendorf, F., Sieweke, N., Huegens-Penzel, M., Traupe, H., Wienker, T.F., 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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