Molecular cytogenetics in the diagnostics of balanced chromosome mutations in the pig (Sus scrofa) - A review

Abstract

Continually improved cytogenetic techniques (differential staining and high resolution banding techniques), complemented with the molecular genetics methods (FISH and PRINS), enable chromosomal mutations to be accurately identified in the karyotype of the pig (Sus scrofa). The major breeding problem are balanced mutations because of their hidden nature, as they affect the animals with normal body conformation (and normal semen parameters in boars), which transfer these aberrations to the next generations and disseminate in the population. This refers to the structural rearrangements (translocations and inversions), causing developmental abnormalities and considerably reducing fertility and productivity parameters in breeding herds, which results in substantial financial losses. Routine karyotype screening using modern cytomolecular diagnostic methods is necessary due to the potential emergence of new mutations and the rapid spread of these genetic defects in the population, especially under artificial insemination conditions.