槐山羊PFOXic基因多态性与间性性状关联分析OA北大核心

Intersex is a congenital reproductive disorder commonly found in goat populations.To understand the mechanism of intersex in Huai goats,genetic polymorphism of the promoter FOXL2 inverse complementary(PFOXic)gene and its relationship with intersex were investigated.This study conducted an analysis of the Y chromosome translocation in intersex Huai goats,detection of the deletion in the polled intersex syndrome(PIS)region,single nucleotide polymorphism(SNP)analysis of the PFOXic gene,and an association analysis between PFOXic gene genotypes and intersex.The results revealed that intersex Huai goats lacked the Y chromosome,and the PIS region was homozygously deleted.Four SNPs were detected in the PFOXic gene:g.129749119 T>C,g.129749087 C>T,g.129748782 T>C,and g.129747880 T>C,with g.129749087 C>T causing a missense mutation.SNP mutation analysis showed that g.129749119 T>C,g.129748782 T>C,and g.129747880 T>C were moderately polymorphic,while g.129749087 C>T was low in polymorphism.All four SNPs were in Hardy-Weinberg equilibrium(P>0.05).The association analysis between SNPs,genotypes,and intersex revealed a significant correlation between the g.129749119 T>C mutation and intersex(P = 0.023),with significant differences between the CC genotype and CT and TT genotypes(P<0.05).Haplotype analysis indicated significant differences between the CCCC haplotype and CTTT haplotype(P<0.05)and highly significant differences between the CCCC haplotype and TCCT and TCCC haplotypes(P<0.01).These results suggest that intersex Huai goats exhibit PIS region deletion,and the g.129749119 T>C mutation in the PFOXic gene is associated with intersex.The findings provide a reference for further studies on the mechanism of intersex in goats and the function of the PFOXic gene.