The PCR-SSCP and DNA sequencing methods detecting a large deletion mutation at KAP6.2 locus in the cashmere goat

It is known that keratin-associated proteins 6.2 gene (KAP6.2) is an important structural gene responsible for the cashmere. So in this study, the polymorphism of KAP6.2 gene was firstly detected by PCR-SSCP and DNA sequencing methods in 1052 cashmere goat samples. The results showed that two alleles were detected at the locus, which were named as allele O and X. Frequencies of KAP6.2-O allele in Inner Mongolia White cashmere (n = 847) and Shaanbei White cashmere goat breeds (n = 205) were 1.000 and 0.856, respectively. Inner Mongolia White cashmere goat was monomorphic at this locus, while Shaanbei White cashmere goat was at low polymorphic level. Therefore, the allele KAP6.2-X was considered as the breed characterization of Shaanbei White cashmere goat at KAP6.2 locus. Further sequencing analysis showed that a 24-bp deletion mutation was described for the first time in Shaanbei, while Inner Mongolia White cashmere goat did not have the deletion. The study indicated that deletion mutation was predicted as a possible cause for the multiple pattern cashmere in Shaanbei White cashmere goat.