Chromosome instability in Mediterranean Italian buffaloes affected by limb malformation (transversal hemimelia)

Abstract

For several years, a genetic disease called transversal hemimelia (TH), also known as congenital amputation, has been spreading in Mediterranean Italian buffalo. TH is characterized by the lack of limb distal structures, normally developing proximally to the malformed limb and being amputated at different points distally. A sample of 13 animals affected by TH was examined using the chromosome aberration (CA) test to better characterize chromosome instability already emerging in a preliminary study where we found a significantly higher difference (P < 0.001) in the mean rate of sister chromatid exchange/cell (8.80 ± 3.19) performed in 10 malformed animals, when compared with the control (6.61 ± 2.73). The percentage of aneuploid cells was higher in animals with TH (12.76) than in control animals (7.85). Mean gaps are greater in cells of animals with TH (6.62 ± 2.38) than those found in the control (2.86 ± 1.01) and similar results were obtained in chromatid breaks (0.13 ± 0.31 and 0.07 ± 0.06, respectively), chromosome breaks (0.11 ± 0.27 and 0.06 ± 0.13, respectively) and CAs excluding gaps (0.24 ± 0.47 and 0.13 ± 0.18, respectively). All these differences are statistically highly significant (P < 0.001).