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Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.

Publication ,  Journal Article
Winn, MP; Conlon, PJ; Lynn, KL; Howell, DN; Slotterbeck, BD; Smith, AH; Graham, FL; Bembe, M; Quarles, LD; Pericak-Vance, MA; Vance, JM
Published in: Genomics
June 1, 1999

Focal segmental glomerulosclerosis (FSGS) is a pathological entity characterized by proteinuria, nephrotic syndrome, and the progressive loss of renal function. It is a common cause of end-stage renal disease (ESRD). Recently, familial forms of FSGS have been identified. Two families with autosomal dominant FSGS were evaluated for linkage using 351 genomic microsatellite markers. Linkage, multipoint analysis, and tests for heterogeneity were performed on the subsequent results. In addition, three small families were used for haplotype analysis. Evidence for linkage was found on chromosome 11q21-q22 for the largest family, with a maximum lod score of 9.89. The gene is currently localized to an 18-cM area between flanking markers D11S2002 and D11S1986. The disease in a second family was not linked to this locus or to a previously described locus on chromosome 19q13. There were no shared haplotypes among affected individuals in the three smaller families. Our findings demonstrate that genetic heterogeneity is prevalent in FSGS in that at least three genes cause the FSGS phenotype. Identification of the genes that cause familial FSGS will provide valuable insights into the molecular basis and pathophysiology of FSGS.

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Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

June 1, 1999

Volume

58

Issue

2

Start / End Page

113 / 120

Location

United States

Related Subject Headings

  • Pedigree
  • Middle Aged
  • Male
  • Kidney
  • Humans
  • Haplotypes
  • Glomerulosclerosis, Focal Segmental
  • Genetics & Heredity
  • Genetic Markers
  • Genetic Linkage
 

Citation

APA
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Winn, M. P., Conlon, P. J., Lynn, K. L., Howell, D. N., Slotterbeck, B. D., Smith, A. H., … Vance, J. M. (1999). Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics, 58(2), 113–120. https://doi.org/10.1006/geno.1999.5828
Winn, M. P., P. J. Conlon, K. L. Lynn, D. N. Howell, B. D. Slotterbeck, A. H. Smith, F. L. Graham, et al. “Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.Genomics 58, no. 2 (June 1, 1999): 113–20. https://doi.org/10.1006/geno.1999.5828.
Winn MP, Conlon PJ, Lynn KL, Howell DN, Slotterbeck BD, Smith AH, et al. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics. 1999 Jun 1;58(2):113–20.
Winn, M. P., et al. “Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity.Genomics, vol. 58, no. 2, June 1999, pp. 113–20. Pubmed, doi:10.1006/geno.1999.5828.
Winn MP, Conlon PJ, Lynn KL, Howell DN, Slotterbeck BD, Smith AH, Graham FL, Bembe M, Quarles LD, Pericak-Vance MA, Vance JM. Linkage of a gene causing familial focal segmental glomerulosclerosis to chromosome 11 and further evidence of genetic heterogeneity. Genomics. 1999 Jun 1;58(2):113–120.
Journal cover image

Published In

Genomics

DOI

ISSN

0888-7543

Publication Date

June 1, 1999

Volume

58

Issue

2

Start / End Page

113 / 120

Location

United States

Related Subject Headings

  • Pedigree
  • Middle Aged
  • Male
  • Kidney
  • Humans
  • Haplotypes
  • Glomerulosclerosis, Focal Segmental
  • Genetics & Heredity
  • Genetic Markers
  • Genetic Linkage