Molecular analysis of gene deletion in aniridia--Wilms tumor association

Hum Genet. 1985;70(2):157-62. doi: 10.1007/BF00273074.

Abstract

Hybrid clones were produced from the fusion of Chinese hamster cells and human fibroblasts from a patient with the aniridia-Wilms tumor association (AWTA). The DNA from the parental cells and the hybrid clones was screened by Southern blot and DNA hybridization with probes for the human insulin and Ha-ras-1 genes. Two alleles for the Ha-ras-1 gene were shown to exist in the AWTA cells by restriction fragment length polymorphism. One hybrid clone, containing a single allele for Ha-ras-1 was shown to contain a single chromosome 11 with a cytogenetically visible deletion at 11p13. The DNA from this hybrid contained the human genes for insulin, A gamma-globin, G gamma-globin, Ha-ras-1, and calcitonin, but lacked any human sequences homologous to a human catalase cDNA. This clone was also shown to express human lactate dehydrogenase A (LDH A) activity. These data indicate that the deletion of the affected chromosome in this AWTA patient begins distal to LDH A and includes band 11p13, but does not extend to calcitonin or other genes thought to be located in the distal half of chromosome 11p.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Catalase / genetics
  • Cell Line
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping*
  • Chromosomes, Human, 6-12 and X*
  • Cricetinae
  • Cricetulus
  • DNA Restriction Enzymes
  • Fibroblasts
  • Genetic Markers
  • Humans
  • Hybrid Cells
  • Insulin / genetics
  • Iris / abnormalities*
  • Karyotyping
  • Kidney Neoplasms / complications
  • Kidney Neoplasms / genetics*
  • L-Lactate Dehydrogenase / genetics
  • Nucleic Acid Hybridization
  • Oncogenes
  • Wilms Tumor / complications
  • Wilms Tumor / genetics*

Substances

  • Genetic Markers
  • Insulin
  • L-Lactate Dehydrogenase
  • Catalase
  • DNA Restriction Enzymes