Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13

Article Abstract:

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLO-SL) is a recessively inherited disorder of unknown pathogenesis involving systemic bone cysts and progressive presenile frontal-lobe dementia and death before the age of 50. Mostly in Japan and Finland, 160 cases have been reported since the 1960s. The locus for PLO-SL has been found by random genome screening using a modified haplotype-sharing method in patients in a genetically isolated group and it is in a 9-cM interval between D19S191 and D19S420 on chromosome 19q13.

Author: Peltonen, Leena, Lonnqvist, Jouko, Hovatta, Iiris, Tranebjaerg, Lisbeth, Terwilliger, Joseph D., Pekkarinen, Petra, Hakola, Panu, Jarvi, Osmo, Kestila, Marjo, Lenkkeri, Ulla, Adolfsson, Rolf, Holmgren, Gosta, Nylander, Per-Olof
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 1998
Finland, Japan, Health aspects, Gene mutations, Gene mutation, Genetic aspects, Bone diseases, Presenile dementia

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Estimating ethnic admixture from pedigree data

Article Abstract:

The article discusses a new approach for the estimation of ethnic admixture from data obtained from individuals, as well as pedigrees. An ancestry-informative marker (AIM) is used for this estimation.

Author: Lange, Kenneth, Sinsheimer, Janet S., Plaisier, Christopher L., Huertas-Vazquez, Adriana, Aguilar-Salinas, Carlos, Tusie-Luna, Teresa, Pajukanta, Paivi
Publisher: University of Chicago Press
Publication Name: American Journal of Human Genetics
Subject: Biological sciences
ISSN: 0002-9297
Year: 2008
Science & research, Research, Usage, Genotype, Genotypes, Human population genetics, Pedigree analysis

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