Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease

Sabine Kroiss, Kirsten Huck, Silke Berthold, Franz Rüschendorf, Francesco Scolari, Gianluca Caridi, Gian Marco Ghiggeri, Friedhelm Hildebrandt, Arno Fuchshuber

Research output: Contribution to journalArticle

Abstract

Background. Autosomal dominant medullary cystic kidney disease is a genetically heterogeneous nephropathy with clinical and morphological features similar to recessively inherited juvenile nephronophthisis. Recently, a second gene locus on chromosome 16p12, MCKD2 has been mapped [1] in addition to the known locus on chromosome 1q21 (MCKD1) [2]. In a previous study we have excluded linkage for three caucasian families to the MCKD1 locus [3]. Methods. Haplotype analysis was performed on 72 individuals (including 24 affected subjects), using a set of seven microsatellite markers spanning the critical region on chromosome 16p12-p13 of about 10.5 cM. Results. We report on haplotype analysis of closely linked markers to the MCKD2 locus in the previously studied families and two additional families. Conclusion. In all five families the association of MCKD2 with the disease was excluded by a multipoint LOD score <-2, thus suggesting the involvement of a third MCKD locus.

Original languageEnglish
Pages (from-to)818-821
Number of pages4
JournalNephrology Dialysis Transplantation
Volume15
Issue number6
Publication statusPublished - 2000

Fingerprint

Genetic Heterogeneity
Chromosomes
Haplotypes
Microsatellite Repeats
Genes
Medullary cystic kidney disease 1

Keywords

  • Autosomal dominant medullary cystic kidney disease
  • Chronic renal failure
  • Haplotype analysis
  • Juvenile nephronophthisis
  • Medullary cystic disease

ASJC Scopus subject areas

  • Nephrology
  • Transplantation

Cite this

Kroiss, S., Huck, K., Berthold, S., Rüschendorf, F., Scolari, F., Caridi, G., ... Fuchshuber, A. (2000). Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease. Nephrology Dialysis Transplantation, 15(6), 818-821.

Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease. / Kroiss, Sabine; Huck, Kirsten; Berthold, Silke; Rüschendorf, Franz; Scolari, Francesco; Caridi, Gianluca; Ghiggeri, Gian Marco; Hildebrandt, Friedhelm; Fuchshuber, Arno.

In: Nephrology Dialysis Transplantation, Vol. 15, No. 6, 2000, p. 818-821.

Research output: Contribution to journalArticle

Kroiss, S, Huck, K, Berthold, S, Rüschendorf, F, Scolari, F, Caridi, G, Ghiggeri, GM, Hildebrandt, F & Fuchshuber, A 2000, 'Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease', Nephrology Dialysis Transplantation, vol. 15, no. 6, pp. 818-821.
Kroiss, Sabine ; Huck, Kirsten ; Berthold, Silke ; Rüschendorf, Franz ; Scolari, Francesco ; Caridi, Gianluca ; Ghiggeri, Gian Marco ; Hildebrandt, Friedhelm ; Fuchshuber, Arno. / Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease. In: Nephrology Dialysis Transplantation. 2000 ; Vol. 15, No. 6. pp. 818-821.
@article{cc783f13ef2e4b4789257da83c1db61a,
title = "Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease",
abstract = "Background. Autosomal dominant medullary cystic kidney disease is a genetically heterogeneous nephropathy with clinical and morphological features similar to recessively inherited juvenile nephronophthisis. Recently, a second gene locus on chromosome 16p12, MCKD2 has been mapped [1] in addition to the known locus on chromosome 1q21 (MCKD1) [2]. In a previous study we have excluded linkage for three caucasian families to the MCKD1 locus [3]. Methods. Haplotype analysis was performed on 72 individuals (including 24 affected subjects), using a set of seven microsatellite markers spanning the critical region on chromosome 16p12-p13 of about 10.5 cM. Results. We report on haplotype analysis of closely linked markers to the MCKD2 locus in the previously studied families and two additional families. Conclusion. In all five families the association of MCKD2 with the disease was excluded by a multipoint LOD score <-2, thus suggesting the involvement of a third MCKD locus.",
keywords = "Autosomal dominant medullary cystic kidney disease, Chronic renal failure, Haplotype analysis, Juvenile nephronophthisis, Medullary cystic disease",
author = "Sabine Kroiss and Kirsten Huck and Silke Berthold and Franz R{\"u}schendorf and Francesco Scolari and Gianluca Caridi and Ghiggeri, {Gian Marco} and Friedhelm Hildebrandt and Arno Fuchshuber",
year = "2000",
language = "English",
volume = "15",
pages = "818--821",
journal = "Nephrology Dialysis Transplantation",
issn = "0931-0509",
publisher = "Oxford University Press",
number = "6",

}

TY - JOUR

T1 - Evidence of further genetic heterogeneity in autosomal dominant medullary cystic kidney disease

AU - Kroiss, Sabine

AU - Huck, Kirsten

AU - Berthold, Silke

AU - Rüschendorf, Franz

AU - Scolari, Francesco

AU - Caridi, Gianluca

AU - Ghiggeri, Gian Marco

AU - Hildebrandt, Friedhelm

AU - Fuchshuber, Arno

PY - 2000

Y1 - 2000

N2 - Background. Autosomal dominant medullary cystic kidney disease is a genetically heterogeneous nephropathy with clinical and morphological features similar to recessively inherited juvenile nephronophthisis. Recently, a second gene locus on chromosome 16p12, MCKD2 has been mapped [1] in addition to the known locus on chromosome 1q21 (MCKD1) [2]. In a previous study we have excluded linkage for three caucasian families to the MCKD1 locus [3]. Methods. Haplotype analysis was performed on 72 individuals (including 24 affected subjects), using a set of seven microsatellite markers spanning the critical region on chromosome 16p12-p13 of about 10.5 cM. Results. We report on haplotype analysis of closely linked markers to the MCKD2 locus in the previously studied families and two additional families. Conclusion. In all five families the association of MCKD2 with the disease was excluded by a multipoint LOD score <-2, thus suggesting the involvement of a third MCKD locus.

AB - Background. Autosomal dominant medullary cystic kidney disease is a genetically heterogeneous nephropathy with clinical and morphological features similar to recessively inherited juvenile nephronophthisis. Recently, a second gene locus on chromosome 16p12, MCKD2 has been mapped [1] in addition to the known locus on chromosome 1q21 (MCKD1) [2]. In a previous study we have excluded linkage for three caucasian families to the MCKD1 locus [3]. Methods. Haplotype analysis was performed on 72 individuals (including 24 affected subjects), using a set of seven microsatellite markers spanning the critical region on chromosome 16p12-p13 of about 10.5 cM. Results. We report on haplotype analysis of closely linked markers to the MCKD2 locus in the previously studied families and two additional families. Conclusion. In all five families the association of MCKD2 with the disease was excluded by a multipoint LOD score <-2, thus suggesting the involvement of a third MCKD locus.

KW - Autosomal dominant medullary cystic kidney disease

KW - Chronic renal failure

KW - Haplotype analysis

KW - Juvenile nephronophthisis

KW - Medullary cystic disease

UR - http://www.scopus.com/inward/record.url?scp=0034024484&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0034024484&partnerID=8YFLogxK

M3 - Article

C2 - 10831633

AN - SCOPUS:0034024484

VL - 15

SP - 818

EP - 821

JO - Nephrology Dialysis Transplantation

JF - Nephrology Dialysis Transplantation

SN - 0931-0509

IS - 6

ER -