X- and Y-chromosome-specific variants of the amelogenin gene allow non-invasive sex diagnosis for the detection of pseudohermaphrodite goats

Renáta Fábián, András Kovács, Viktor Stéger, Krisztián Frank, István Egerszegi, János Oláh, Szilárd Bodó
2017 Acta Veterinaria Hungarica  
The Polled Intersex Syndrome (PIS) is responsible for the absence of horns in homozygous and heterozygous goats causing a female-to-male sex reversal in the homozygous polled genotypic female (XX) goats. A simple and efficient non-invasive method was elaborated to detect the genotypic sex from hair and faecal samples using a pair of primers to amplify the X-and Y-linked alleles of the amelogenin gene. The PCR products were easily distinguishable using agarose gel electrophoresis: we detected an
more » ... X-specific single band in samples originating from healthy phenotypic females and double (X-and Y-) bands in samples from males. The new PCR method is applicable for diagnosing the sex of PISaffected animals already as newborn kids, in contrast with the phenotypic findings appearing only after puberty, and thus it may replace the cumbersome chromosome investigations. The goat (Capra aegagrus f. hircus) is an important livestock animal in agricultural production for multiple purposes. There were world-wide efforts to create a polled goat breed, but all of them failed because of the growing proportion of hermaphrodite and male pseudohermaphrodite kids and the absence of homozygous polled females. According to Asdell's (1944) hypothesis the increasing number of phenotypic male and hermaphrodite kids and the shifted sex proportion were caused by XX sex reversal in the case of homozygous genetic females. This was corroborated later by chromosome investigations (Basrur and Kanagawa, 1969) . The phenotypic variability in these individuals is the consequence of a complex mechanism of the sexual differentiation process in which *
doi:10.1556/004.2017.047 pmid:29256284 fatcat:t24wo5nojzarbhayg3vfpl2hei