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
Finland, Japan, Health aspects, Gene mutations, Gene mutation, Bone diseases, Presenile dementia

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HLA-B maternal-fetal genotype matching increases risk of schizophrenia

Article Abstract:

A family-based candidate-gene study assesses maternal-fetal genotype matching at human leucocyte antigen-A (HLA-A), -B and -DRB1 as a risk factor of schizophrenia in offspring. The approach demonstrates the use of genetic markers to characterize the biology of prenatal risk factors of schizophrenia, and findings support the neurodevelopmental hypothesis of schizophrenia, and also suggest that the prenatal period is involved in the origin of this disease.

author: Sinsheimer, Janet S., Peltonen, Leena, Lonnqvist, Jouko, Palmer, Christina G.S., Hsin-Ju Hsieh, Reed, Elaine F., Woodward, J. Arthur
Risk factors, Genetic markers, Schizophrenia

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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
Human population genetics, Pedigree analysis

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subjects list: Genetic aspects, Research, Usage, Genotype, Genotypes
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