[X-linked thin basement membrane nephropathy was linked with COL4A5 gene]

Zhonghua Yi Xue Za Zhi. 2000 Aug;80(8):582-4.
[Article in Chinese]

Abstract

Objective: To genetically analyze 9 thin basement membrane nephropathy (TBMN) pedegrees using microsatellite marker 2B6 and DXS101 closely linked with COL4A5 gene located on chromosome X.

Methods: Genomic DNA was extracted. Highly polymorphic microsatellite markers (2B6 and DXS101) closely linked with COL4A5 gene located on chromosome X were amplified with PCR. Nine TBMN families were analysed.

Results: Three of 9 TBMN families were linked with COL4A5 gene on chromosome X (lod score = 2.7, theta = 0.00).

Conclusion: X-linked TBMN is linked with COL4A5 gene on chromosome X.

Publication types

  • English Abstract

MeSH terms

  • Adult
  • Basement Membrane / metabolism
  • Basement Membrane / pathology
  • Collagen Type IV / genetics*
  • DNA / genetics
  • Family Health
  • Female
  • Gene Frequency
  • Genetic Linkage
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Nephritis, Hereditary / genetics*
  • Nephritis, Hereditary / pathology
  • Pedigree
  • Polymerase Chain Reaction
  • X Chromosome / genetics*

Substances

  • Collagen Type IV
  • DNA