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

D. J.M. Peters; L. Spruit; J. J. Saris; D. Ravine; L. A. Sandkuijl; R. Fossdal; J. Boersma; R. van Eijk; S. Nørby; C. D. Constantinou-Deltas; A. Pierides; J. E. Briessenden; R. R. Frants; G. J.B. van Ommen; M. H. Breuning

doi:10.1038/ng1293-359

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

D. J.M. Peters^*
, L. Spruit
, J. J. Saris
, D. Ravine
, L. A. Sandkuijl
, R. Fossdal
, J. Boersma
, R. van Eijk
, S. Nørby
, C. D. Constantinou-Deltas
, A. Pierides
, J. E. Briessenden
, R. R. Frants
, G. J.B. van Ommen
, M. H. Breuning

^*Corresponding author for this work

Virology

Research output: Contribution to journal › Article › Academic › peer-review

260 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	359-362
Number of pages	4
Journal	Nature Genetics
Volume	5
Issue number	4
DOIs	https://doi.org/10.1038/ng1293-359
Publication status	Published - Dec 1993

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Peters, D. J. M., Spruit, L., Saris, J. J., Ravine, D., Sandkuijl, L. A., Fossdal, R., Boersma, J., van Eijk, R., Nørby, S., Constantinou-Deltas, C. D., Pierides, A., Briessenden, J. E., Frants, R. R., van Ommen, G. J. B., & Breuning, M. H. (1993). Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease. Nature Genetics, 5(4), 359-362. https://doi.org/10.1038/ng1293-359

@article{4f0a97e85b00459ca7f65833732b4d8b,

title = "Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease",

abstract = "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.",

author = "Peters, \{D. J.M.\} and L. Spruit and Saris, \{J. J.\} and D. Ravine and Sandkuijl, \{L. A.\} and R. Fossdal and J. Boersma and \{van Eijk\}, R. and S. N{\o}rby and Constantinou-Deltas, \{C. D.\} and A. Pierides and Briessenden, \{J. E.\} and Frants, \{R. R.\} and \{van Ommen\}, \{G. J.B.\} and Breuning, \{M. H.\}",

year = "1993",

month = dec,

doi = "10.1038/ng1293-359",

language = "English",

volume = "5",

pages = "359--362",

journal = "Nature Genetics",

issn = "1061-4036",

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Peters, DJM, Spruit, L, Saris, JJ, Ravine, D, Sandkuijl, LA, Fossdal, R, Boersma, J, van Eijk, R, Nørby, S, Constantinou-Deltas, CD, Pierides, A, Briessenden, JE, Frants, RR, van Ommen, GJB & Breuning, MH 1993, 'Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease', Nature Genetics, vol. 5, no. 4, pp. 359-362. https://doi.org/10.1038/ng1293-359

TY - JOUR

T1 - Chromosome 4 localization of a second gene for autosomal dominant polycystic kidney disease

AU - Peters, D. J.M.

AU - Spruit, L.

AU - Saris, J. J.

AU - Ravine, D.

AU - Sandkuijl, L. A.

AU - Fossdal, R.

AU - Boersma, J.

AU - van Eijk, R.

AU - Nørby, S.

AU - Constantinou-Deltas, C. D.

AU - Pierides, A.

AU - Briessenden, J. E.

AU - Frants, R. R.

AU - van Ommen, G. J.B.

AU - Breuning, M. H.

PY - 1993/12

Y1 - 1993/12

N2 - 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.

AB - 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.

UR - https://www.scopus.com/pages/publications/0027452094

U2 - 10.1038/ng1293-359

DO - 10.1038/ng1293-359

M3 - Article

C2 - 8298643

AN - SCOPUS:0027452094

SN - 1061-4036

VL - 5

SP - 359

EP - 362

JO - Nature Genetics

JF - Nature Genetics

IS - 4

ER -

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

Abstract

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