Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is a genetically heterogeneous disorder. A gene defect located on the short arm of chromosome 16 is responsible for the disease in roughly 86% of affected European families. Using highly polymorphic microsatellite DNA markers, we have assigned a second gene for ADPKD to chromosome 4. In eight families with clear evidence against linkage to chromosome 16 markers, linkage analysis with the markers D4S231 and D4S423, demonstrated a multipoint lod score of 22.42.

[1]  A. Young,et al.  A polymorphic DNA marker genetically linked to Huntington's disease , 1983, Nature.

[2]  Y. Shugart,et al.  Segregation analysis of autosomal dominant polycystic kidney disease , 1993, Genetic epidemiology.

[3]  J. Weber,et al.  Abundant class of human DNA polymorphisms which can be typed using the polymerase chain reaction. , 1989, American journal of human genetics.

[4]  G. Gyapay,et al.  A second-generation linkage map of the human genome , 1992, Nature.

[5]  H. Donis-Keller,et al.  A comprehensive genetic linkage map of the human genome. NIH/CEPH Collaborative Mapping Group. , 1992, Science.

[6]  G. Germino,et al.  Positional cloning approach to the dominant polycystic kidney disease gene, PKD1. , 1993, Kidney international. Supplement.

[7]  K. Davies,et al.  A highly polymorphic DNA marker linked to adult polycystic kidney disease on chromosome 16 , 1985, Nature.

[8]  Jeffrey C. Murray,et al.  Construction of a human chromosome 4 YAC pool and analysis of artificial chromosome stability , 1992, Nucleic Acids Res..

[9]  W. W. Buchanan,et al.  LYSOSOMES IN DIVIDING CELLS. , 1965, Lancet.

[10]  Dalgaard Oz.  Bilateral polycystic disease of the kidneys; a follow-up of two hundred and eighty-four patients and their families. , 1957 .

[11]  L. Sandkuijl,et al.  MEGABASE/PKD: a genetic database for polycystic kidney disease. , 1992, Contributions to nephrology.

[12]  G. A. Gillespie,et al.  The gene for autosomal dominant polycystic kidney disease lies in a 750-kb CpG-rich region. , 1992, Genomics.

[13]  K H Buetow,et al.  Genetic and physical maps of human chromosome 4 based on dinucleotide repeats. , 1992, Genomics.

[14]  D. Cox,et al.  The development of sequence-tagged sites for human chromosome 4. , 1993, Human molecular genetics.

[15]  Ann M. Johnson,et al.  Intracranial aneurysms in autosomal dominant polycystic kidney disease. , 1992, The New England journal of medicine.

[16]  P. Gabow,et al.  Linkage heterogeneity of autosomal dominant polycystic kidney disease. , 1988, The New England journal of medicine.

[17]  L. Sandkuijl,et al.  Genetic heterogeneity of polycystic kidney disease in Europe. , 1992, Contributions to nephrology.

[18]  J. Weber,et al.  Location of facioscapulohumeral muscular dystrophy gene on chromosome 4 , 1990, The Lancet.

[19]  M. Devoto,et al.  A SECOND GENETIC LOCUS FOR AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE , 1988, The Lancet.

[20]  N. Simpson,et al.  Linkage exclusion between the autosomal dominant polycystic kidney disease locus and chromosome 16 markers in a new family. , 1991, Journal of the American Society of Nephrology : JASN.

[21]  P. Parfrey,et al.  Autosomal dominant polycystic kidney disease: new information for genetic counselling. , 1992, American journal of medical genetics.

[22]  M. H. Gault,et al.  The diagnosis and prognosis of autosomal dominant polycystic kidney disease. , 1990, The New England journal of medicine.

[23]  G. Lathrop,et al.  Easy calculations of lod scores and genetic risks on small computers. , 1984, American journal of human genetics.

[24]  R. Richards,et al.  Phenotype and genotype heterogeneity in autosomal dominant polycystic kidney disease , 1992, The Lancet.

[25]  M. Schwartz,et al.  Possible locus for polycystic kidney disease on chromosome 2 , 1990, The Lancet.

[26]  G. A. Gillespie,et al.  Fine genetic localization of the gene for autosomal dominant polycystic kidney disease (PKD1) with respect to physically mapped markers. , 1992, Genomics.

[27]  Ann M. Johnson,et al.  Factors affecting the progression of renal disease in autosomal-dominant polycystic kidney disease. , 1992 .

[28]  H. Schnaper,et al.  Role of laminin in endothelial cell recognition and differentiation. , 1993, Kidney international.

[29]  M. H. Gault,et al.  Age at clinical onset and at ultrasonographic detection of adult polycystic kidney disease: data for genetic counselling. , 1984, American journal of medical genetics.

[30]  G. V. van Ommen,et al.  Report of the committee on the genetic constitution of chromosome 4. , 1990, Cytogenetics and cell genetics.

[31]  G. A. Gillespie,et al.  CpG island in the region of an autosomal dominant polycystic kidney disease locus defines the 5' end of a gene encoding a putative proton channel. , 1991, Proceedings of the National Academy of Sciences of the United States of America.