中文摘要：

促卵泡素 （ｆｏｌｌｉｃｌｅｓｔｉｍｕｌａｔｉｎｇｈｏｒｍｏｎｅ，ＦＳＨ）对刺激动物卵泡发育和促进精子生成具有重要作用，但有关牛科物种 ＦＳＨ基因的群体遗传特征还不十分清楚。本文针对 ＦＳＨβ基因外显子 １和外显子 ２，采用 ＰＣＲＳＳＣＰ结合 ＰＣＲ产物直接测序技术对 ３５３头水牛 （来自 １１个水牛群体）、３０头牦牛和 ３０头大额牛样品进行了群体变异检测，并结合 ＮＣＢＩ数据库中已发表的普通牛、山羊和绵羊等物种同源序列进行了群体遗传和生物信息学分析。在 ＦＳＨβ基因外显子 １中，水牛中发现 １个核苷酸替换和 １个缺失，即 ｃ－４９Ａ＞Ｇ和 ｃ－３１ｄｅｌＧ；其中，ＳＮＰ４９在河流型和沼泽型水牛中均存在，等位基因 ｃ－４９Ａ为优势等位基因，而 ｃ－３１ｄｅｌＧ只存在于沼泽型水牛中，且为杂合状态，基因频率为 ００７７。在牦牛外显子 １中检测到 ｃ－３７Ｇ＞Ａ和 ｃ－１２Ｔ＞Ｃ替换，且为连锁遗传的，而在大额牛外显子 １中未检测到 ＳＮＰ位点。在 ＦＳＨβ基因外显子 ２中，水牛中发现ｃ１３２Ｇ＞Ａ替换，该位点在河流型和沼泽型水牛均存在，但等位基因频率在两类水牛间不一致。在牦牛外显子 ２中检测到 ｃ９Ｃ＞Ｔ和 ｃ２１Ｃ＞Ｔ替换，该替换也存在于普通牛中；大额牛外显子 ２为单态，未见 ＳＮＰ位点。生物信息学分析显示，在一些牛科物种 ＦＳＨβ基因外显子 ２中发现的 ＳＮＰ位点均为同义替换，揭示了其序列的高度保守性。在牛科物种中，山羊和绵羊 ＦＳＨβ基因第 ３６位密码子编码氨基酸与其他物种不同，可作为区分它们的遗传标记。

英文摘要：

Follicle-stimulating hormone （FSH） plays an essential role in mammalian follicular devel-opment and spermatogenesis, but the population genetic characteristics about FSH gene in bovine spe- cies is unclear. In this study, the polymorphisms in the exon 1 and exon 2 of FSHfl gene were assayed by using the methods of PCR-SSCP with DNA sequencing in 353 water buffalo which belong to 11 dif- ferent populations, 30 yaks and 30 gayals. And population genetics and bioinformatics analysis was conducted on the data obtained in this study and retr/eved from NCBI database which included homolo- gous DNA sequences in some species such as cattle, goat and sheep. For the exon 1 of FSHfl gene, one substitution and one deletion were identified in the water buffalo, namely c. -49A 〉 G and c. - 31delG. The former was simultaneously present in river and swamp buffalo which e. -d9A was major allele, whereas the latter was only found in swamp buffalo which exist in heterozygosis and its gene fre- quency was 0. 077. Substitution c. - 37G 〉 A and c. - 12T 〉 C were identified in the exon 1 of FSHj8 gene in yak, which were linked together, but no SNP was found in the exonl of FSHfl gene in gayal. For the exon 2 of FSHfl gene, substitution c. 132G 〉 A was detected in river and swamp buffalo, but the gene frequencies at this locus are different in two kind of buffalo. Substitution c. 9C 〉 T and c. 21C 〉 T were found in the exon 2 of FSHβ gene of yak, which also existed in cattle. The exon 2 of FSHfl gene in gayal was still monomorphic. The results by bioinformatics analysis revealed the SNPs found in the exon 2 of FSHβ gene of some bovine species were all synonymous, which indicated that it was highly conservative in phylogenesis. In the species of family Bovidae, the amino acid encoded by codon 36 of FSHβ gene in goat and sheep was different with other bovine species, which can be used as the genetic marker to distinguish them from other bovine species.