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. 1994 Jul;7(3):429-32.
doi: 10.1038/ng0794-429.

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

K Zerres  1 , G Mücher, L Bachner, G Deschennes, T Eggermann, H Kääriäinen, M Knapp, T Lennert, J Misselwitz, K E von Mühlendahl, et al.
Affiliations

Mapping of the gene for autosomal recessive polycystic kidney disease (ARPKD) to chromosome 6p21-cen

K Zerres et al. Nat Genet. 1994 Jul.

Abstract

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.

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Comment in

  • Prime suspect for cystic kidneys.
    [No authors listed] [No authors listed] Nat Genet. 1994 Jul;7(3):341-2. doi: 10.1038/ng0794-341. Nat Genet. 1994. PMID: 7920647 No abstract available.

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