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动物生殖系统类固醇5α还原酶Ⅱ型（steroid 5 alpha-reductase 2,SRD5A2）的表达与生殖细胞成熟及胚胎存活密切相关。为研究SRD5A2基因突变对湖羊繁殖性状的影响，试验选取384只湖羊，采集耳组织提取DNA，利用混池PCR及飞行质谱基因分型技术筛选鉴定湖羊SRD5A2基因的单核苷酸多态性（single nucleotide polymorphism,SNP）位点，分析其遗传多样性，并与产羔数及产羔间隔进行关联分析。结果显示：在SRD5A2的3'非翻译区（3'-untranslated region, 3'UTR）存在4个SNPs位点，分别为g. 46 935 A>G、g. 48 348 A>G、g. 48 388 A>T和g. 48 746 A>G，均有3种基因型且处于Hardy-Weinberg平衡状态。g. 48 388 A>T位点AA型个体的第1～2胎和第1～3胎产羔数显著高于AT型个体（P<0.05）。g. 48 746 A>G位点AG型个体的第4胎产羔数显著低于GG型个体（P<0.05）,AA型个体的第2～3胎产羔间隔显著低于GG型个体（P<0.05）。4个SNP位点产生了4种单倍型和5种双倍型，其中双倍型H3H4(GGAATTAG)和H4H4(GGAATTGG)个体产羔数较高。综上，SRD5A2基因的g. 48 388 A>T和g. 48 746 A>G位点与繁殖性状相关，可作为选育的分子标记，为利用分子育种手段扩繁湖羊提供科学依据。
Abstract：The expression of steroid 5-alpha reductase type 2(SRD5A2) in animal reproductive system is closely correlated with germ cell maturation and embryo survival. To investigate the impact of SRD5A2 gene variations on the reproductive performance of Hu sheep, ear tissues were collected from 384 individuals for DNA extraction. Pooled PCR and Mass ARRAY genotyping were applied to screen the single nucleotide polymorphisms(SNPs) in SRD5A2 gene, assess its genetic diversity, and analyze the association with litter size and lambing interval. Results showed that four SNPs were found within the 3'UTR of SRD5A2 gene: g. 46 935 A>G, g. 48 348 A>G, g. 48 388 A>T, and g. 48 746 A>G, in each of 4 loci three genotypes were detected, respectively, and in Hardy-Weinberg equilibrium. At g. 48 388 A>T locus, AA genotypes had a significantly higher litter size from parities 1-2, and 1-3 than AT genotypes. At g. 48 746 A>G locus, AG genotypes produced a significantly higher litter size in the 4 th parity than GG genotypes and AA genotypes exhibited a significantly shorter lambing interval between parities 2-3 than GG genotypes. Moreover, 4 haplotypes and 5 diplotypes were detected in 4 SNPs, and individuals with diplotypes H3H4(GGAATTAG) and H4H4(GGAATTGG) exhibited higher litter sizes. In conclusion, the g. 48 388 A>T and g. 48 746 A>G loci in SRD5A2 gene are associated with the reproductive traits and could be the molecular markers in the marker-assisted selection in Hu sheep.
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Basic Information:
DOI：10.19848/j.cnki.ISSN1005-2739.2025.10.0001
China Classification Code:S826
Citation Information:
[1]仓振,刘馨,孟旭铭,等.湖羊SRD5A2基因多态性与繁殖性状的关联性分析[J].黑龙江动物繁殖,2025,33(05):1-9.DOI:10.19848/j.cnki.ISSN1005-2739.2025.10.0001.
Fund Information:
国家重点研发计划项目（2022YFD1300205）