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作 者:哈斯通拉嘎 宋小雨 姚志云 蒯子茹 李君 魏红芳 王拥庆 尹慧茹 权凯 韩浩园 HASI Tonglaga;SONG Xiaoyu;YAO Zhiyun;KUAI Ziru;LI Jun;WEI Hongfang;WANG Yongqing;YIN Huiru;QUAN Kai;HAN Haoyuan(College of Animal Science and Technology,Henan University of Animal Husbandry and Economy,Zhengzhou 450046,China;College of Agriculture,Ningxia University,Yinchuan 750021,China;Science and Technology R&D Center of Agriculture and Animal Husbandry of Shenqiu County,Zhoukou 466300,China)
机构地区:[1]河南牧业经济学院动物科技学院,河南郑州450046 [2]宁夏大学农学院,宁夏银川750021 [3]沈丘县农牧科技研发中心,河南周口466300
出 处:《中国兽医杂志》2024年第5期63-70,共8页Chinese Journal of Veterinary Medicine
基 金:河南省重点研发与推广专项(科技攻关)(222102110024,222102110311);河南省现代农业产业技术体系建设专项资金(HARS-22-15-S)。
摘 要:间性是一种多发于山羊群体的先天性繁殖障碍疾病。为了解槐山羊间性性状发生机制,叉头转录因子2(FOXL2)启动子反向互补(PFOXic)基因的遗传多态性及其与间性性状的关系,本试验进行了间性槐山羊Y染色体易位分析、无角间性综合征(PIS)区缺失检测、PFOXic基因单核苷酸多态性(SNP)分析和PFOXic基因型与间性性状的关联分析。结果显示,间性槐山羊染色体构成不含Y染色体,且PIS区均纯合缺失;在PFOXic基因中共检测到4个SNP:g.129749119 T>C、g.129749087 C>T、g.129748782 T>C和g.129747880 T>C,其中g.129749087 C>T为错义突变。SNP突变位点分析结果显示,g.129749119 T>C、g.129748782 T>C和g.129747880 T>C突变为中度多态,g.129749087 C>T突变为低度多态,4个SNP均处于Hardy-Weinberg平衡(P>0.05)。SNP和基因型与间性性状关联分析结果显示,g.129749119 T>C突变位点与槐山羊间性性状之间存在显著相关性(P=0.023),CC基因型与CT和TT基因型间均差异显著(P<0.05);单倍型与间性性状关联分析结果显示,CCCC单倍型与CTTT单倍型间差异显著(P<0.05),CCCC单倍型与TCCT和TCCC单倍型间均差异极显著(P<0.01)。结果表明,间性槐山羊PIS区缺失,且PFOXic基因g.129749119 T>C突变与间性性状相关,本试验结果为进一步研究山羊间性性状发生机制和PFOXic基因功能提供参考依据。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.
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