Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma.
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.
Niemann
S
S
Institut für Humangenetik, Justus-Liebig-Universität, Giessen, Germany.
Becker-Follmann
J
J
Nürnberg
G
G
Rüschendorf
F
F
Sieweke
N
N
Hügens-Penzel
M
M
Traupe
H
H
Wienker
T F
TF
Reis
A
A
Müller
U
U
D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006239:Haplotypes / Q000235:genetics; D006801:Humans; D008126:Lod Score; D008297:Male; D010236:Paraganglioma, Extra-Adrenal / Q000235:genetics*; D010375:Pedigree; D020161:Physical Chromosome Mapping