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Updated: Aug 11, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
Spontaneous and induced chromosome aberrations in Balkan endemic nephropathy
D I Toncheva1, T D Gergov, M T Tzoneva
1Department of Medical Genetics, NINUHT, Sofia, Bulgaria.
Abstract:
The aim of the present study was to investigate the spontaneous aberrations and chromosome breakages induced by X-rays and folic acid deficiency. In patients with Balkan endemic nephropathy (BEN) a higher frequency of spontaneous aberrations and chromosome lesions in medium TC 199 and radiation induced breakages were found compared with the healthy individuals. In BEN patients the 3q25 band was most frequently involved in the aberrations. These results support the idea that 3q25 may play a specific role and be a marker for BEN. Three of the additional five bands with increased frequencies of lesions in BEN patients contain oncogenes: 1q36-c src, 3p25-raf-1, and 6q23-myb. The frequent association of BEN and cancer can be explained by the chromosomal hypothesis of oncogenesis.
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