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Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma
- Source :
- American Journal of Medical Genetics. 98:32-36
- Publication Year :
- 2000
- Publisher :
- Wiley, 2000.
-
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.
Details
- ISSN :
- 10968628 and 01487299
- Volume :
- 98
- Database :
- OpenAIRE
- Journal :
- American Journal of Medical Genetics
- Accession number :
- edsair.doi...........e56e545e983f73eb9056e53a3c7ae954