Abstract
Linkage analysis in 19 families with autosomal recessive polycystic kidney disease (ARPKD) has shown that ARPKD is not linked to the recently assigned second gene locus for autosomal dominant polycystic kidney disease (ADPKD) on chromosome 4q (PKD2). Thus, there is strong evidence that ADPKD and ARPKD have different gene loci.
References
Hazan J, Dubay C, Pankowiak MP, Becuwe N, Weissenbach J (1992) A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers. Genomics 12:183–189.
Kimberling WJ, Fain PR, Kenyon JB, Goldgar D, Sujansky E, Gabow PA (1988) Linkage heterogeneity of autosomal dominant polycystic kidney disease. N Engl J Med 319:913–918.
Kimberling WJ, Kumar S, Gabow PA, Kenyon JB, Conolly L, Somlo S (1993) Autosomal dominant polycystic kidney disease: localization of the second gene to chromosome 4q13-q23. Genomics 18:467–472.
McInnes RR, Bascom RA (1992) Retinal genetics: a nullifying effect for rhodopsin. Nature Genet 1:155–157.
Mills KA, Buetow KH, Xu Y, Weber JL, Altherr MR, Wasmuth JJ, Murray JC (1992) Genetic and physical maps of human chromosome 4 based on dinucleotide repeats. Genomics 14:209–219.
Nørby S, Schwartz M. (1990) Possible locus for polycystic kidney disease on chromosome 2. Lancet 336:323–324.
Parfrey PS, Bear JC, Morgan J, Cramer BC, McManamon PJ, Gault MH, Churchill DN, et al (1990) The diagnosis and prognosis of autosomal dominant polycystic kidney disease. N Engl J Med 323:1085–1090.
Peters DJM, Sandkuijl LA (1992) Genetic heterogeneity of polycystic kidney disease in Europe. Contrib Nephrol 97:128–139.
Peters DJM, Spruit L, Saris JJ, Ravine D, Sandkuijl LA, Fossdal R, Boersma J, et al (1993) Localization of a second gene for autosomal dominant polycystic kidney disease on chromosome 4. Nature Genet 5:359–362.
Ravine D, Walker RG, Gibson RN, Forrest SM, Richards RI, Friend K, Sheffield LJ, et al (1992) Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease. Lancet 340:1330–1333.
Reeders ST, Breuning MH, Davies KE, Nicholls RD, Jarman AP, Higgs DR, Paerson PL, et al (1985) A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16. Nature 317:542–544.
Roa BB, Garcia CA, Pentao L, Killian JM, Trask BJ, Suter U, Snipes GJ, et al (1993) Evidence for a recessive PMP22 point mutation in Charcot-Marie-Tooth disease type 1A. Nature Genet 5:189–194.
Romeo G, Devoto M, Costa G, Roncuzzi L, Catizone L, Zucchelli P, Germino GG, et al (1988) A second locus for autosomal dominant polycystic kidney disease. Lancet 11:8–11.
Rosenfeld PJ, Cowley GS, McGee TL, Sandberg MA, Berson EL, Dryja TP (1992) A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genet 1:209–213.
Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseise G, et al (1992) A second-generation linkage map of the human genome. Nature 359:794–801.
Wirth B, Zerres K, Fischbach M, Claus D, Neumann HPH, Lennert T, Brodehl J, et al (1987) Autosomal recessive and dominant forms of polycystic kidney disease are not allelic. Hum Genet 7:221–222.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Zerres, K., Mücher, G. & Rudnik-Schöneborn, S. Autosomal recessive polycystic kidney disease does not map to the second gene locus for autosomal dominant polycystic kidney disease on chromosome 4. Hum Genet 93, 697–698 (1994). https://doi.org/10.1007/BF00201574
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00201574