Molecular characterization, polymorphism and association of Keratin-Associated Protein 13.1 (KAP13.1) gene in Changthangi goats

In this study, characterization of KAP13.1 gene and polymorphism analysis in Changthangi goat population was attempted. Association of genotype and sex with Pashmina production traits (diameter, yield, and down thickness) was also assessed. After PCR amplification, restriction digestion with PvuII and sequencing (in both directions) of KAP13.1 gene were done. Mutation at nucleotide position g. 171 T > G was observed in KAP13.1 gene. This SNP created a restriction site for PvuII and an important missense mutation in KAP13.1 protein, causing a change of codon from CTG (Leucine) >CGG (Arginine). The frequencies of A1A1, A2A2 and A1A2 genotypes based on the observed polymorphic patterns of KAP13.1 gene of Changthangi goats were 0.00, 0.427 and 0.573, respectively. Genotypic distribution of the genotypes of a 501bp fragment of KAP13.1 gene varied significantly (P < 0.05) from Hardy-Weinberg equilibrium. The variability parameters for the two gene loci analyzed were as heterozygosity: 0.3360; PIC: 0.279...