Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage

Matthias T.F. Wolf, Isabella Zalewski, Félix Claverie Martin, Rainer Ruf, Dominik Müller, Hans C. Hennies, Stella Schwarz, Franziska Panther, Massimo Attanasio, Hilaria G. Acosta, Anita Imm, Barbara Lucke, Boris Utsch, Edgar Otto, Peter Nurnberg, Victor Garcia Nieto, Friedhelm Hildebrandt

Research output: Contribution to journalArticle

19 Citations (Scopus)

Abstract

Background. Nephrolithiasis is a complex, multifactorial disease resulting from genetic and environmental interaction. The pathogenesis of nephrolithiasis is far from being understood. So far, no gene locus for autosomal dominant nephrolithiasis only has been described. We here identified a new suggestive gene locus for autosomal dominant nephrolithiasis by a genome-wide search for linkage in a Spanish kindred with nephrolithiasis. Methods. Clinical data, blood and urine samples of 18 individuals from a Spanish kindred with nephrolithiasis were collected. We performed a genome-wide search for linkage using 380 polymorphic microsatellite markers. Results. Nephrolithiasis segregated in this Spanish kindred in a pattern compatible with autosomal dominant inheritance. The total genome search yielded the highest two-point LOD score Of Zmax = 1.99 (θ=0) for marker D9S159 on chromosome 9q33.2-q34.2. Multipoint analysis of 24 polymorphic markers used for further fine mapping resulted in a LOD score of Zmax = 2.7 (θ=0) for markers D9S1881-D9S164, thereby identiflying a new gene locus for autosomal dominant nephrolithiasis (NPL1). Two recombination events define D9S1850 as the centromeric flanking marker and D9S1818 as the telomeric flanking marker, restricting the NPL1 locus to a 14 Mb interval. Conclusion. We here identified a new suggestive gene locus (NPL1) for autosomal dominant nephrolithiasis. It is localized on chromosome 9q33.2-q34.2. The identification of the responsible gene will provide new insights into the molecular basis of nephrolithiasis.

LanguageEnglish
Pages909-914
Number of pages6
JournalNephrology Dialysis Transplantation
Volume20
Issue number5
Early online date1 Mar 2005
DOIs
Publication statusPublished - 1 May 2005
Externally publishedYes

Fingerprint

Nephrolithiasis
Chromosomes
Genome
Genes
Inborn Genetic Diseases
Microsatellite Repeats
Genetic Recombination
Urine

Cite this

Wolf, Matthias T.F. ; Zalewski, Isabella ; Martin, Félix Claverie ; Ruf, Rainer ; Müller, Dominik ; Hennies, Hans C. ; Schwarz, Stella ; Panther, Franziska ; Attanasio, Massimo ; Acosta, Hilaria G. ; Imm, Anita ; Lucke, Barbara ; Utsch, Boris ; Otto, Edgar ; Nurnberg, Peter ; Nieto, Victor Garcia ; Hildebrandt, Friedhelm. / Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. In: Nephrology Dialysis Transplantation. 2005 ; Vol. 20, No. 5. pp. 909-914.
@article{3ee4ac84f2ad420ea723a1e6daaf2ce8,
title = "Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage",
abstract = "Background. Nephrolithiasis is a complex, multifactorial disease resulting from genetic and environmental interaction. The pathogenesis of nephrolithiasis is far from being understood. So far, no gene locus for autosomal dominant nephrolithiasis only has been described. We here identified a new suggestive gene locus for autosomal dominant nephrolithiasis by a genome-wide search for linkage in a Spanish kindred with nephrolithiasis. Methods. Clinical data, blood and urine samples of 18 individuals from a Spanish kindred with nephrolithiasis were collected. We performed a genome-wide search for linkage using 380 polymorphic microsatellite markers. Results. Nephrolithiasis segregated in this Spanish kindred in a pattern compatible with autosomal dominant inheritance. The total genome search yielded the highest two-point LOD score Of Zmax = 1.99 (θ=0) for marker D9S159 on chromosome 9q33.2-q34.2. Multipoint analysis of 24 polymorphic markers used for further fine mapping resulted in a LOD score of Zmax = 2.7 (θ=0) for markers D9S1881-D9S164, thereby identiflying a new gene locus for autosomal dominant nephrolithiasis (NPL1). Two recombination events define D9S1850 as the centromeric flanking marker and D9S1818 as the telomeric flanking marker, restricting the NPL1 locus to a 14 Mb interval. Conclusion. We here identified a new suggestive gene locus (NPL1) for autosomal dominant nephrolithiasis. It is localized on chromosome 9q33.2-q34.2. The identification of the responsible gene will provide new insights into the molecular basis of nephrolithiasis.",
keywords = "Haplotype analysis, Nephrolithiasis, Recombination",
author = "Wolf, {Matthias T.F.} and Isabella Zalewski and Martin, {F{\'e}lix Claverie} and Rainer Ruf and Dominik M{\"u}ller and Hennies, {Hans C.} and Stella Schwarz and Franziska Panther and Massimo Attanasio and Acosta, {Hilaria G.} and Anita Imm and Barbara Lucke and Boris Utsch and Edgar Otto and Peter Nurnberg and Nieto, {Victor Garcia} and Friedhelm Hildebrandt",
year = "2005",
month = "5",
day = "1",
doi = "10.1093/ndt/gfh754",
language = "English",
volume = "20",
pages = "909--914",
journal = "Nephrology Dialysis Transplantation",
issn = "0931-0509",
publisher = "Oxford University Press",
number = "5",

}

Wolf, MTF, Zalewski, I, Martin, FC, Ruf, R, Müller, D, Hennies, HC, Schwarz, S, Panther, F, Attanasio, M, Acosta, HG, Imm, A, Lucke, B, Utsch, B, Otto, E, Nurnberg, P, Nieto, VG & Hildebrandt, F 2005, 'Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage', Nephrology Dialysis Transplantation, vol. 20, no. 5, pp. 909-914. https://doi.org/10.1093/ndt/gfh754

Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage. / Wolf, Matthias T.F.; Zalewski, Isabella; Martin, Félix Claverie; Ruf, Rainer; Müller, Dominik; Hennies, Hans C.; Schwarz, Stella; Panther, Franziska; Attanasio, Massimo; Acosta, Hilaria G.; Imm, Anita; Lucke, Barbara; Utsch, Boris; Otto, Edgar; Nurnberg, Peter; Nieto, Victor Garcia; Hildebrandt, Friedhelm.

In: Nephrology Dialysis Transplantation, Vol. 20, No. 5, 01.05.2005, p. 909-914.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Mapping a new suggestive gene locus for autosomal dominant nephrolithiasis to chromosome 9q33.2-q34.2 by total genome search for linkage

AU - Wolf, Matthias T.F.

AU - Zalewski, Isabella

AU - Martin, Félix Claverie

AU - Ruf, Rainer

AU - Müller, Dominik

AU - Hennies, Hans C.

AU - Schwarz, Stella

AU - Panther, Franziska

AU - Attanasio, Massimo

AU - Acosta, Hilaria G.

AU - Imm, Anita

AU - Lucke, Barbara

AU - Utsch, Boris

AU - Otto, Edgar

AU - Nurnberg, Peter

AU - Nieto, Victor Garcia

AU - Hildebrandt, Friedhelm

PY - 2005/5/1

Y1 - 2005/5/1

N2 - Background. Nephrolithiasis is a complex, multifactorial disease resulting from genetic and environmental interaction. The pathogenesis of nephrolithiasis is far from being understood. So far, no gene locus for autosomal dominant nephrolithiasis only has been described. We here identified a new suggestive gene locus for autosomal dominant nephrolithiasis by a genome-wide search for linkage in a Spanish kindred with nephrolithiasis. Methods. Clinical data, blood and urine samples of 18 individuals from a Spanish kindred with nephrolithiasis were collected. We performed a genome-wide search for linkage using 380 polymorphic microsatellite markers. Results. Nephrolithiasis segregated in this Spanish kindred in a pattern compatible with autosomal dominant inheritance. The total genome search yielded the highest two-point LOD score Of Zmax = 1.99 (θ=0) for marker D9S159 on chromosome 9q33.2-q34.2. Multipoint analysis of 24 polymorphic markers used for further fine mapping resulted in a LOD score of Zmax = 2.7 (θ=0) for markers D9S1881-D9S164, thereby identiflying a new gene locus for autosomal dominant nephrolithiasis (NPL1). Two recombination events define D9S1850 as the centromeric flanking marker and D9S1818 as the telomeric flanking marker, restricting the NPL1 locus to a 14 Mb interval. Conclusion. We here identified a new suggestive gene locus (NPL1) for autosomal dominant nephrolithiasis. It is localized on chromosome 9q33.2-q34.2. The identification of the responsible gene will provide new insights into the molecular basis of nephrolithiasis.

AB - Background. Nephrolithiasis is a complex, multifactorial disease resulting from genetic and environmental interaction. The pathogenesis of nephrolithiasis is far from being understood. So far, no gene locus for autosomal dominant nephrolithiasis only has been described. We here identified a new suggestive gene locus for autosomal dominant nephrolithiasis by a genome-wide search for linkage in a Spanish kindred with nephrolithiasis. Methods. Clinical data, blood and urine samples of 18 individuals from a Spanish kindred with nephrolithiasis were collected. We performed a genome-wide search for linkage using 380 polymorphic microsatellite markers. Results. Nephrolithiasis segregated in this Spanish kindred in a pattern compatible with autosomal dominant inheritance. The total genome search yielded the highest two-point LOD score Of Zmax = 1.99 (θ=0) for marker D9S159 on chromosome 9q33.2-q34.2. Multipoint analysis of 24 polymorphic markers used for further fine mapping resulted in a LOD score of Zmax = 2.7 (θ=0) for markers D9S1881-D9S164, thereby identiflying a new gene locus for autosomal dominant nephrolithiasis (NPL1). Two recombination events define D9S1850 as the centromeric flanking marker and D9S1818 as the telomeric flanking marker, restricting the NPL1 locus to a 14 Mb interval. Conclusion. We here identified a new suggestive gene locus (NPL1) for autosomal dominant nephrolithiasis. It is localized on chromosome 9q33.2-q34.2. The identification of the responsible gene will provide new insights into the molecular basis of nephrolithiasis.

KW - Haplotype analysis

KW - Nephrolithiasis

KW - Recombination

UR - http://www.scopus.com/inward/record.url?scp=21044454166&partnerID=8YFLogxK

U2 - 10.1093/ndt/gfh754

DO - 10.1093/ndt/gfh754

M3 - Article

VL - 20

SP - 909

EP - 914

JO - Nephrology Dialysis Transplantation

T2 - Nephrology Dialysis Transplantation

JF - Nephrology Dialysis Transplantation

SN - 0931-0509

IS - 5

ER -