Molecular analysis of gene deletion in aniridia--Wilms tumor association.
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.
Michalopoulos
E E
EE
Bevilacqua
P J
PJ
Stokoe
N
N
Powers
V E
VE
Willard
H F
HF
Lewis
W H
WH
D000818:Animals; D002374:Catalase / Q000235:genetics; D002460:Cell Line; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002906:Chromosomes, Human, 6-12 and X; D006224:Cricetinae; D003412:Cricetulus; D004262:DNA Restriction Enzymes; D005347:Fibroblasts; D005819:Genetic Markers; D006801:Humans; D006822:Hybrid Cells; D007328:Insulin / Q000235:genetics; D007498:Iris / Q000002:abnormalities*; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000150:complications / Q000235:genetics*; D007770:L-Lactate Dehydrogenase / Q000235:genetics; D009693:Nucleic Acid Hybridization; D009857:Oncogenes; D009396:Wilms Tumor / Q000150:complications / Q000235:genetics*
D005819:Genetic Markers; D007328:Insulin; D007770:L-Lactate Dehydrogenase; D002374:Catalase; D004262:DNA Restriction Enzymes