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Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen.
Zerres, K; Mücher, G; Bachner, L; Deschennes, G; Eggermann, T; Kääriäinen, H; Knapp, M; Lennert, T; Misselwitz, J; von Mühlendahl, K E.
Afiliação
  • Zerres K; Institut für Humangenetik der Universität Bonn, Germany.
Nat Genet ; 7(3): 429-32, 1994 Jul.
Article em En | MEDLINE | ID: mdl-7920664
Autosomal recessive polycystic kidney disease (ARPKD) is one of the major hereditary nephropathies in children predominantly presenting in early childhood. The clinical picture is variable but there is a fatal outcome in many cases. We have performed linkage analysis in 16 ARPKD families and localized the ARPKD gene to chromosomal region 6p21-cen with no evidence for genetic heterogeneity among different clinical phenotypes. Linkage was confirmed using six adjacent microsatellite markers and the highest lod score of 7.42 was obtained with D6S272 at theta = 0.00. Our findings should lead to more accurate forms of prenatal diagnosis than those currently available using ultrasound.
Assuntos
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Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Rim Policístico Autossômico Recessivo / Genes Recessivos Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 1994 Tipo de documento: Article
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Base de dados: MEDLINE Assunto principal: Cromossomos Humanos Par 6 / Rim Policístico Autossômico Recessivo / Genes Recessivos Tipo de estudo: Diagnostic_studies Limite: Female / Humans / Infant / Male / Newborn Idioma: En Ano de publicação: 1994 Tipo de documento: Article