摘要
[目的]为探究新疆不同海拔地区绵羊HIF-1α基因多态性与低氧适应血液生理指标关联。[方法]采用PCR产物测序法分析SNPs,对高海拔(4200 m)的塔什库尔干羊和低海拔(1200 m)的多浪羊HIF-1α基因SNPs各基因型与血液生理指标进行关联分析。[结果]不同海拔的绵羊共检测到10个SNPs,其中位于第9外显子的g.71949384 G>A为错义突变,VAL363ILE,第12外显子上g.71952349 A>T为错义突变,THR657SER,突变导致整个蛋白质不稳定系数增加0.86,未发现蛋白质结构和功能的明显变化。突变位点的GA和AT基因型具有增加红细胞数目(RBC)和血红蛋白浓度(HGB)的遗传效应,但差异不显著(P>0.05),降低平均红细胞体积(MCV)和血小板数(PLT)(P<0.05)。与藏羊相比在第10外显子新发现多态位点g.71950138T<C。[结论]绵羊HIF-1α基因突变会影响下游HIF信号通路的基因表达,导致RBC、MCV、HGB等血液生理指标出现差异,是绵羊适应低氧环境的分子及生理学基础。
[Objective]To investigate the association between HIF-1αgene polymorphism and low oxygen adaptation blood physiological indicators in sheep at different altitudes in Xinjiang.[Method]PCR product sequencing was used to analyze SNPs,and correlation analysis was conducted between various genotypes of HIF-1αgene SNPs and blood physiological indi-cators in Tashkurgan sheep at high altitude(4200 m)and Duolang sheep at low altitude(1200 m).[Result]A total of 10 SNPs were detected in sheep at different altitudes,among which g.71949384 G>A in Exon 9 was a missense mutation,VAL363ILE,and g.71952349 A>T in Exon 12 was a missense mutation,THR657SER.The mutation increased the overall protein instability coefficient by 0.86,and no significant changes in protein structure and function were found.The GA and AT genotypes of the mutation site have a genetic effect of increasing red blood cell count(RBC)and hemoglobin concentration(HGB),but the difference is not significant(P>0.05),and decreasing mean corpuscular volume(MCV)and platelet count(PLT)(P<0.05).Compared with Tibetan sheep,a new polymorphic site g.71950138 T<C was discovered in Exon 10.[Conclusion]The mutation of sheep HIF-1αgene can affect the gene expression of downstream HIF signaling pathway,lead-ing to differences in blood physiological indicators such as RBC,MCV,HGB,etc.,which is the molecular and physiological basis for sheep to adapt to low oxygen environment.
作者
于慧城
周正
王世锋
赵贝贝
詹建立
阿布都热合曼·吐尔逊
YU Huicheng;ZHOU Zheng;WANG Shifeng;ZHAO Beibei;ZHAN Jianli;TURSUN Abudureheman(Key Laboratory of Biological Resources and Ecology of Pamir Plateau,College of Life and Geographic Sciences,Kashi University,Kashi 844000,China)
出处
《生物技术》
2025年第6期691-697,共7页
Biotechnology
基金
新疆高校科研计划项目(XJEDU2021SI024)。
