Miao Yong-Wang, Ha Fu, Gao Hua-Shan, Yuan Feng, Li Da-Lin, Yuan Yue-Yun
Yunnan Agricultural University, Kunming, China.
Dongwuxue Yanjiu. 2012 Aug;33(4):402-8. doi: 10.3724/SP.J.1141.2012.04402.
To elucidate the genetic characteristics of the bovine Inhibin α subunit (INHA) gene, the polymorphisms in exon 1 of INHA and its bilateral sequences were assayed using PCR with direct sequencing in buffalo, gayal and yak. A comparative analysis was conducted by pooled the results in this study with the published data of INHA on some mammals including some bovine species together. A synonymous substitution c.73C>A was identified in exon 1 of INHA for buffalo, which results in identical encoding product in river and swamp buffalo. In gayal, two non-synonymous but same property substitutions in exon 1 of INHA, viz. c.62 C>T and c.187 G>A, were detected, which lead to p. P21L, p. V63M changes in INHA, respectively. In yak, nucleotide substitution c.62C> T, c.129A>G were found in exon 1 of INHA, the former still causes p. P21L substitution and the latter is synonymous. For the sequence of the 5'-flanking region of INHA examined, no SNPs were found within the species, but a substitution, c. -6T>G, was found. The nucleotide in this site in gayal, yak and cattle was c. -6G, whereas in buffalo it was c. -6T. Meanwhile, a 6-bp deletion, namely c. 262+31_262+36delTCTGAC, was found in the intron of buffalo INHA gene. For this deletion, wild types (+/+) account for main part in river buffalo while mutant types (-/-) are predominant in swamp buffalo. This deletion was not found in gayal, yak and cattle, though these all have another deletion in the intron of INHA, c. 262+78_262+79delTG. The results of sequence alignment showed that the substitutions c. 43A and c. 67G in exon 1 of INHA are specific to buffalo, whereas the substitutions c. 173A and c. 255G are exclusive to gayal, yak and cattle, and c. 24C, c. 47G, c. 174T and c. 206T are specific to goat. Furthermore, there are few differences among gayal, yak and cattle, but there relatively great differences between buffalo, goat and other bovine species regarding the sequences of INHA exon 1.
为阐明牛抑制素α亚基（INHA）基因的遗传特征，采用PCR直接测序法检测了水牛、大额牛和牦牛INHA基因外显子1及其两侧序列的多态性。将本研究结果与已发表的包括一些牛种在内的某些哺乳动物INHA数据汇总进行比较分析。在水牛INHA基因外显子1中鉴定出一个同义替换c.73C>A，该替换在河流型水牛和沼泽型水牛中产生相同的编码产物。在大额牛中，检测到INHA基因外显子1中有两个非同义但性质相同的替换，即c.62 C>T和c.187 G>A，分别导致INHA中p.P21L、p.V63M的变化。在牦牛中，INHA基因外显子1中发现核苷酸替换c.62C>T、c.129A>G，前者仍导致p.P21L替换，后者为同义替换。在所检测的INHA基因5'-侧翼区序列中，各物种内均未发现单核苷酸多态性（SNP），但发现了一个替换c.-6T>G。大额牛、牦牛和牛该位点的核苷酸为c.-6G，而水牛为c.-6T。同时，在水牛INHA基因内含子中发现一个6bp的缺失，即c.262+31_262+36delTCTGAC。对于该缺失，河流型水牛中野生型（+/+）占主要部分，而沼泽型水牛中突变型（-/-）占主导。在大额牛、牦牛和牛中未发现该缺失，不过它们在INHA基因内含子中均有另一个缺失，即c.262+78_262+79delTG。序列比对结果表明，INHA基因外显子1中的替换c.43A和c.67G是水牛特有的，而替换c.173A和c.255G是大额牛、牦牛和牛特有的，c.24C、c.47G、c.174T和c.206T是山羊特有的。此外，大额牛、牦牛和牛之间差异较小，但水牛、山羊与其他牛种在INHA基因外显子1序列上差异相对较大。
