Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1

John J. Neary, Peter J. Conlon, David Croke, Anthony Dorman, Mary Keogan, Feng Yu Zhang, Jeffery M Vance, Margaret A Pericak-Vance, William K Scott, Michelle P. Winn

Research output: Contribution to journalArticle

34 Citations (Scopus)

Abstract

Membranoproliferative glomerulonephritis (MPGN) type III is a chronic progressive renal disease of unknown cause. The diagnosis is based on renal pathologic features (specifically immunofluorescence staining patterns and ultrastructural appearance). Mesangial cell proliferation and subendothelial and subepithelial deposits characterize the renal disease. Although the actual prevalence of this disease is not known, the disease is rare and usually sporadic. The clinical features of MPGN include the nephrotic syndrome and hematuria, with renal dysfunction occurring in approximately 50% of patients. Progression to end-stage renal disease is variable, and some patients exhibit stabilization or even improvement. Here is presented an Irish family in which there are eight affected members in four generations, suggesting autosomal dominant inheritance. This is the only reported family with an inherited form of MPGN type III. To evaluate the disease in this family, a genome-wide scan was performed with a panel of 402 polymorphic microsatellite markers, defining a grid with an average resolution of 10 cM (centimorgans). Significant evidence for linkage was observed on chromosome 1q31-32, with a maximal logarithm of the odds score of 3.86 at θ = 0.00 for microsatellite marker GATA135F02. Recombination events among affected individuals, as detected by haplotype analysis, established a 22-cM minimal candidate region flanked by markers D1S3470 and GATA124F08. The data provide evidence for a gene for familial MPGN on chromosome 1q.

Original languageEnglish
Pages (from-to)2052-2057
Number of pages6
JournalJournal of the American Society of Nephrology
Volume13
Issue number8
DOIs
StatePublished - Jul 30 2002
Externally publishedYes

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Membranoproliferative Glomerulonephritis
Chromosomes, Human, Pair 1
Kidney
Microsatellite Repeats
Genes
Chromosomes
Mesangial Cells
Nephrotic Syndrome
Hematuria
Rare Diseases
Chronic Renal Insufficiency
Haplotypes
Genetic Recombination
Chronic Kidney Failure
Fluorescent Antibody Technique
Cell Proliferation
Genome
Staining and Labeling

ASJC Scopus subject areas

  • Nephrology

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Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. / Neary, John J.; Conlon, Peter J.; Croke, David; Dorman, Anthony; Keogan, Mary; Zhang, Feng Yu; Vance, Jeffery M; Pericak-Vance, Margaret A; Scott, William K; Winn, Michelle P.

In: Journal of the American Society of Nephrology, Vol. 13, No. 8, 30.07.2002, p. 2052-2057.

Research output: Contribution to journalArticle

Neary, John J. ; Conlon, Peter J. ; Croke, David ; Dorman, Anthony ; Keogan, Mary ; Zhang, Feng Yu ; Vance, Jeffery M ; Pericak-Vance, Margaret A ; Scott, William K ; Winn, Michelle P. / Linkage of a gene causing familial membranoproliferative glomerulonephritis type III to chromosome 1. In: Journal of the American Society of Nephrology. 2002 ; Vol. 13, No. 8. pp. 2052-2057.
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