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 mem...
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| Veröffentlicht in: | American journal of medical genetics 2001-01, Vol.98 (1), p.32-36 |
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| container_title | American journal of medical genetics |
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| creator | Niemann, Stephan Becker-Follmann, Johannes Nürnberg, Gudrun Rüschendorf, Franz Sieweke, Nicole Hügens-Penzel, Monika Traupe, Horst Wienker, Thomas F. Reis, André Müller, Ulrich |
| description | 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. © 2001 Wiley‐Liss, Inc. |
| doi_str_mv | 10.1002/1096-8628(20010101)98:1<32::AID-AJMG1004>3.0.CO;2-8 |
| format | Article |
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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. © 2001 Wiley‐Liss, Inc.</description><identifier>ISSN: 0148-7299</identifier><identifier>EISSN: 1096-8628</identifier><identifier>DOI: 10.1002/1096-8628(20010101)98:1<32::AID-AJMG1004>3.0.CO;2-8</identifier><identifier>PMID: 11426453</identifier><identifier>CODEN: AJMGDA</identifier><language>eng</language><publisher>New York: John Wiley & Sons, Inc</publisher><subject>Biological and medical sciences ; chromosome 1 ; Chromosomes, Human, Pair 1 - genetics ; Family Health ; Female ; Genes, Dominant ; Genetic Linkage ; Haplotypes - genetics ; Humans ; Lod Score ; Male ; Medical sciences ; Neurology ; paraganglioma ; Paraganglioma, Extra-Adrenal - genetics ; Pedigree ; PGL3 ; Physical Chromosome Mapping ; Tumors of the nervous system. 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J. Med. Genet</addtitle><description>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. © 2001 Wiley‐Liss, Inc.</description><subject>Biological and medical sciences</subject><subject>chromosome 1</subject><subject>Chromosomes, Human, Pair 1 - genetics</subject><subject>Family Health</subject><subject>Female</subject><subject>Genes, Dominant</subject><subject>Genetic Linkage</subject><subject>Haplotypes - genetics</subject><subject>Humans</subject><subject>Lod Score</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Neurology</subject><subject>paraganglioma</subject><subject>Paraganglioma, Extra-Adrenal - genetics</subject><subject>Pedigree</subject><subject>PGL3</subject><subject>Physical Chromosome Mapping</subject><subject>Tumors of the nervous system. 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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. © 2001 Wiley‐Liss, Inc.</abstract><cop>New York</cop><pub>John Wiley & Sons, Inc</pub><pmid>11426453</pmid><doi>10.1002/1096-8628(20010101)98:1<32::AID-AJMG1004>3.0.CO;2-8</doi><tpages>5</tpages></addata></record> |
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| subjects | Biological and medical sciences chromosome 1 Chromosomes, Human, Pair 1 - genetics Family Health Female Genes, Dominant Genetic Linkage Haplotypes - genetics Humans Lod Score Male Medical sciences Neurology paraganglioma Paraganglioma, Extra-Adrenal - genetics Pedigree PGL3 Physical Chromosome Mapping Tumors of the nervous system. Phacomatoses type 3 |
| title | Assignment of PGL3 to chromosome 1 (q21-q23) in a family with autosomal dominant non-chromaffin paraganglioma |
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