IMPROVED EARLY DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE WITH FLANKING DNA MARKERS

M. H. Breuning; H. Brunner; J. J. Saris; G. J.B. Van Ommen; S. T. Reeders; J. W. Ijdo; A. Verwest; P. L. Pearson

doi:10.1016/S0140-6736(87)91256-6

IMPROVED EARLY DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE WITH FLANKING DNA MARKERS

M. H. Breuning, H. Brunner, J. J. Saris, G. J.B. Van Ommen, S. T. Reeders, J. W. Ijdo, A. Verwest, P. L. Pearson

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

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Abstract

A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.

Original language	English (US)
Pages (from-to)	1359-1361
Number of pages	3
Journal	The Lancet
Volume	330
Issue number	8572
DOIs	https://doi.org/10.1016/S0140-6736(87)91256-6
State	Published - Dec 12 1987
Externally published	Yes

Bibliographical note

Funding Information:
Dr M. Hofker, Dr J. den Dunnen, and Dr M. Wapenaar for preparing the vectors and for stimulating discussions; and the families for their cooperation. The studies were financed by the Netherlands Kidney Foundation.

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title = "IMPROVED EARLY DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE WITH FLANKING DNA MARKERS",

abstract = "A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.",

author = "Breuning, {M. H.} and H. Brunner and Saris, {J. J.} and {Van Ommen}, {G. J.B.} and Reeders, {S. T.} and Ijdo, {J. W.} and A. Verwest and Pearson, {P. L.}",

note = "Funding Information: Dr M. Hofker, Dr J. den Dunnen, and Dr M. Wapenaar for preparing the vectors and for stimulating discussions; and the families for their cooperation. The studies were financed by the Netherlands Kidney Foundation.",

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doi = "10.1016/S0140-6736(87)91256-6",

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AU - Breuning, M. H.

AU - Brunner, H.

AU - Saris, J. J.

AU - Van Ommen, G. J.B.

AU - Reeders, S. T.

AU - Ijdo, J. W.

AU - Verwest, A.

AU - Pearson, P. L.

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N2 - A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.

AB - A new polymorphic DNA marker for the diagnosis of autosomal dominant adult polycystic kidney disease (APKD) has been identified. The new marker, 24-1, flanks the APKD gene on the side opposite to the alpha globin on the short arm of chromosome 16. When both DNA polymorphisms bracketing the gene are informative the reliability of prenatal and presymptom diagnosis of polycystic kidney disease in non-recombinants (92% of cases) is more than 99%.

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IMPROVED EARLY DIAGNOSIS OF ADULT POLYCYSTIC KIDNEY DISEASE WITH FLANKING DNA MARKERS

Abstract

Bibliographical note

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