贵州黑山羊AMH、CYP19A1基因多态性及其与产羔数的关联分析

doi:10.16431/j.cnki.1671-7236.2025.10.024

摘要/Abstract

摘要： 【目的】分析贵州黑山羊抗缪勒氏管激素(AMH)、芳香化酶P450(CYP19A1)基因多态性，筛选出对山羊产羔数有显著影响的单核苷酸多态性(SNP)位点。【方法】以贵州黑山羊为研究对象，利用PCR产物直接测序，对AMH、CYP19A1基因全部外显子进SNP位点筛选，运用在线软件预测AMH、CYP19A1蛋白的二级结构、三级结构以及信号肽，并进行SNP位点与产羔数的关联分析。【结果】在贵州黑山羊AMH基因第5外显子处发现1个SNP位点：g.2612 A＞G；在CYP19A1基因第5外显子处发现1个SNP位点：g.37836 T＞C；在CYP19A1基因第10外显子处发现2个SNPs位点：g.48986 C＞T和g.49046 A＞G。二级结构、三级结构预测发现，AMH、CYP19A1蛋白突变后二级结构稳定性降低，其中无规则卷曲占比最高，具有更高的复杂性，且AMH、CYP19A1蛋白不存在信号肽。χ²检验结果显示，4个SNPs位点基因座均偏离Hardy-Weinberg平衡状态(P＞0.05)，均属于中度多态(0.25＜PIC＜0.5)。关联分析结果表明，AMH基因g.2612 A＞G位点GG基因型贵州黑山羊产羔数极显著或显著高于AG和AA基因型(P＜0.01；P＜0.05)；CYP19A1基因g.49046 A＞G位点GG基因型贵州黑山羊产羔数显著高于AA和AG基因型(P＜0.05)；其他2个SNPs位点不同基因型间产羔数无显著差异(P＞0.05)。【结论】AMH、CYP19A1基因g.2612 A＞G、g.49046 A＞G位点与贵州黑山羊产羔数具有显著相关，可作为山羊产羔性状的分子标记。试验结果为研究贵州黑山羊多胎性状提供了理论依据。

关键词: 贵州黑山羊; AMH基因; CYP19A1基因; 多态性; 产羔数

Abstract: 【Objective】 The aim of this study was to analyze the polymorphism of anti-Müllerian hormone (AMH) and cytochrome P450,family 19,subfamily A,polypeptide 1 (CYP19A1) genes in Guizhou Black goats,and screen out the single nucleotide polymorphism (SNP) that had significant effects on the litter size of goats.【Method】 All the exons of AMH and CYP19A1 genes of Guizhou Black goats were screened by direct sequencing of PCR products,the secondary and tertiary structures of AMH and CYP19A1 proteins and signal peptides were predicted by online software,and the correlation between SNP and litter size was analyzed.【Result】 One SNP (g.2612 A＞G) was identified in the fifth exon of AMH gene in Guizhou Black goats.One SNP (g.37836 T＞C) was found in the fifth exon of CYP19A1 gene,and two SNPs (g.48986 C＞T and g.49046 A＞G) were discovered in the tenth exon of CYP19A1 gene.The secondary and tertiary structure prediction results revealed that the stability of the secondary structure of AMH and CYP19A1 proteins decreased after mutation,with the highest proportion of random coil,indicating higher complexity.Moreover,AMH and CYP19A1 proteins lacked signal peptides. χ² test results showed that all four SNPs deviated from the Hardy-Weinberg equilibrium (P＞0.05),and the polymorphism was moderate (0.25＜PIC＜0.5).The correlation analysis results showed that the litter size of GG genotype at g.2612 A＞G of AMH gene in Guizhou Black goats was extremely significantly or significantly higher than that of AG and AA genotypes (P＜0.01 or P＜0.05).The litter size of GG genotype at g.49046 A＞G of CYP19A1 gene in Guizhou Black goats was significantly higher than that of AA and AG genotypes (P＜0.05),while there was no significant difference in litter size among different genotypes of the other two SNPs (P＞0.05).【Conclusion】 g.2612 A＞G and g.49046 A＞G of AMH and CYP19A1 genes had significant association with the litter size of Guizhou Black goats,and could be used as molecular markers for the litter size of goats.The results provided a theoretical basis for the study of the multiple litter traits of Guizhou Black goats.

Key words: Guizhou Black goats; AMH gene; CYP19A1 gene; polymorphism; litter size

中图分类号:

S813.3

杨蓉, 周迪, 王珍梅, 田兴舟, 陈祥, 吕艳丽, 吴雨, 敖叶, 郭振刚, 赵德鹏, 黄清赟, 张悻. 贵州黑山羊AMH、CYP19A1基因多态性及其与产羔数的关联分析[J]. 中国畜牧兽医, 2025, 52(10): 4785-4795.

YANG Rong, ZHOU Di, WANG Zhenmei, TIAN Xingzhou, CHEN Xiang, LYU Yanli, WU Yu, AO Ye, GUO Zhengang, ZHAO Depeng, HUANG Qingyun, ZHANG Xing. Polymorphism of AMH and CYP19A1 Genes and Its Correlation Analysis with Litter Size in Guizhou Black Goats[J]. China Animal Husbandry & Veterinary Medicine, 2025, 52(10): 4785-4795.

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