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

Am J Med Genet. 2001 Jan 1;98(1):32-6.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Chromosomes, Human, Pair 1 / genetics*
  • Family Health
  • Female
  • Genes, Dominant
  • Genetic Linkage
  • Haplotypes / genetics
  • Humans
  • Lod Score
  • Male
  • Paraganglioma, Extra-Adrenal / genetics*
  • Pedigree
  • Physical Chromosome Mapping