摘要设计5对引物(P1～P5)，用限制性片段长度多态性（RFLP）和单链构象多态性（SSCP）方法检测神经肽Y1受体（neuropeptide Y Y1 receptor，NPY-Y1R）基因在性早熟、高繁殖力品种（济宁青山羊）和性晚熟、中等繁殖力（波尔山羊）以及性晚熟、低繁殖力品种（安哥拉山羊和内蒙古绒山羊）中的单核苷酸多态性，同时研究该基因对济宁青山羊性早熟和高繁殖力的影响。结果发现仅引物P2、P4和P5的扩增片段具有多态性。引物P2在济宁青山羊、安哥拉山羊和内蒙古绒山羊中检测到AA、AB和BB型，在波尔山羊中只检测到AA和AB型；测序发现BB型与AA型相比存在1个突变（C625G），没有引起氨基酸变化；济宁青山羊AA、AB与BB基因型之间产羔数差异均不显著（P>0.05）。引物P4在4个山羊品种中均检测到CC和CD基因型；测序发现CD型与CC型相比发生了G1141A突变，没有引起氨基酸变化；济宁青山羊CC和CD基因型之间产羔数差异不显著（P>0.05）。引物P5在济宁青山羊中检测到EE和EF基因型，在其余3个山羊品种中只检测到EE型；测序发现EF型与EE型相比发生了C1330T突变，没有引起氨基酸变化；济宁青山羊与波尔山羊、安哥拉山羊和内蒙古绒山羊之间NPY-Y1R基因型分布差异均达到极显著（P<0.01）水平，后3个品种之间均无显著差异（P>0.05）；EF型济宁青山羊产羔数均值比EE型多0.58只（P<0.01）。本研究结果初步表明NPY-Y1R基因的F等位基因与济宁青山羊性早熟和高繁殖力相关。
Abstract：Five pairs of primers (P1-P5) were designed to detect single nucleotide polymorphism of neuropeptide Y-Y1 receptor (NPY-Y1R) gene in sexual precocity and high fecundity breed (Jining Grey goat) and sexual precocity and moderate fecundity breed (Boer goat) and sexual late-maturing and low fecundity breeds (Angora and Inner Mongolia Cashmere goats) by PCR-RFLP and PCR-SSCP. The results showed that only the products amplified by primers P2, P4 and P5 displayed polymorphisms. As for P2, three genotypes (AA, AB and BB) were detected in Jining Grey, Inner Mongolia Cashmere and Angora goats, only two genotypes (AA and AB) were in Boer goats. Sequencing revealed one mutation (C625G) in genotype BB compared with genotype AA, which caused no amino acid change. No significant difference (P>0.05) was found in litter size between AA, AB and BB genotypes in Jining Grey goats. As for P4, two genotypes (CC and CD) were detected in four goat breeds. Sequencing revealed one mutation (G1141A) in genotype CD compared with genotype CC, which caused no amino acid change. No significant difference (P>0.05) was found in litter size between CC and CD genotypes in Jining Grey goats. As for P5, two genotypes (EE and EF) were detected in Jining Grey goats, only one genotype EE was in other three goat breeds. Sequencing revealed one mutation (C1330T) in genotype EF compared with genotype EE, which caused no amino acid change. The differences of genotype distribution were highly significant (P<0.01) between Jining Grey goats and three late-maturing breeds, and no significant difference (P>0.05) was found between three late-maturing breeds. The Jining Grey goat does with genotype EF had 0.58 (P<0.01) kids more than those with genotype EE. These results preliminarily indicated that F allele of NPY-YIR gene was associated with sexual precocity and prolificacy in Jining Grey goats.
