赤水乌骨鸡EDNRB2基因多态性及其与肤色性状的关联分析  

Polymorphisms of EDNRB 2 Gene and Its Association with Skin Color Traits in Chishui Black-bone Chickens

作　　者：杨金林 李辉[1,2] 赵德鹏[1,2] 石钰仕 龙霞 谭启松[1,2] YANG Jinlin;LI Hui;ZHAO Depeng;SHI Yushi;LONG Xia;TAN Qisong(Key Laboratory of Animal Genetics,Breeding and Reproduction of Guizhou Province,Key Laboratory of Plateau and Mountain Animal Genetics Breeding and Reproduction,Ministry of Education,Guizhou University,Guiyang 550025,China;College of Animal Science,Guizhou University,Guiyang 550025,China)

机构地区：[1]贵州大学,高原山地动物遗传育种与繁殖教育部重点实验室,贵州省动物遗传育种与繁殖重点实验室,贵阳550025 [2]贵州大学动物科学学院,贵阳550025

出　　处：《中国畜牧兽医》2025年第2期759-770,共12页China Animal Husbandry & Veterinary Medicine

基　　金：贵州地方鸡种质资源挖掘与新品种(配套系)选育(黔科合支撑[2022]重点034);贵州生态肉鸡优势特色产业集群项目(黔财农[2024]80号)。

摘　　要：[目的]分析赤水乌骨鸡内皮素受体B亚型2(endothelin receptor B subtype 2,EDNRB2)基因多态性对乌骨鸡肤色性状的影响,并筛选EDNRB2基因调控赤水乌骨鸡肤色的关键多态位点,为深入探究乌骨鸡黑色素沉积调控的内在机制与赤水乌骨鸡肤色性状的优化改良提供新的遗传标记。[方法]以赤水乌骨鸡作为研究对象,对EDNRB2基因第1~9外显子进行PCR扩增后测序,对所获序列进行比对鉴定其单核苷酸多态性(SNP)位点,并分析EDNRB2基因的遗传多样性。利用RNAfold web server分析EDNRB2基因SNP位点突变前后的mRNA二级结构;利用SHEsis在线网站进行EDNRB2基因SNP位点的连锁不平衡及单倍型、双倍型分析;利用SPSS 27.0软件分析EDNRB2基因多态性与赤水乌骨鸡肤色性状的关联性。[结果]在赤水乌骨鸡EDNRB2基因第3与9外显子上共发现5个SNPs位点,其中第3外显子中存在2个SNPs位点(g.11120193 T>C和g.11120382 C>T),第9外显子中在3个SNPs位点(g.11125882 G>A、g.11125917 T>A、g.11125931 C>A)。g.11120193 T>C位点存在TT、TC、CC 3种基因型,g.11120382 C>T位点存在CC、CT 2种基因型,突变类型均属于同义突变;g.11125882 G>A位点存在GG、AG、AA 3种基因型,属于错义突变(Gly→Glu);g.11125917 T>A位点存在TT、AT、AA 3种基因型,属于错义突变(Phe→Ile);g.11125931 C>A位点存在CC、AC、AA 3种基因型,属于无义突变。EDNRB2基因5个SNPs位点共发现10种单倍型与24种双倍型,其中优势单倍型与双倍型分别为H4与H4H4。关联分析结果显示,EDNRB2基因g.11120193 T>C位点CC基因型个体的鸡冠△a值显著高于TC基因型(P<0.05),背部△a值显著低于TT基因型(P<0.05);g.11125931 C>A位点CC基因型个体鸡冠△L值显著高于AC基因型(P<0.05);其余SNP位点不同基因型个体间的肤色参数差异均不显著(P>0.05)。双倍型H5H5与H7H7对赤水乌骨鸡的肤色性状影响最为明显。[结论]在EDNRB2基因第3、9外显子上共发现5个SNPs位点,其�[Objective]This study was aimed to analyze the effects of polymorphisms in endothelin receptor B subtype 2(EDNRB2)gene on skin color traits in Chishui Black-bone chickens,and screen the key polymorphism loci of EDNRB 2 gene in regulating skin color of Chishui Black-bone chickens,in order to provide new genetic markers for a thorough examination of the intrinsic mechanism regulating melanin deposition in silky fowls and the optimization and improvement of skin color traits in Chishui Black-bone chickens.[Method]Chishui Black-bone chickens were used as the research subject in this study.The nine exons of EDNRB 2 gene were sequenced after PCR amplification,the single nucleotide polymorphism(SNP)of EDNRB 2 gene were identified by comparison,and the genetic diversity of EDNRB 2 gene were analyzed.The mRNA secondary structure before and after the mutation of EDNRB 2 gene SNPs was analyzed by RNAfold web server.The chain disequilibrium,haplotype and diplotype of EDNRB 2 gene SNP were analyzed using SHEsis online website.The correlation between EDNRB 2 gene SNP and skin color traits in Chishui Black-bone chickens was analyzed by SPSS 27.0 software.[Result]Five SNPs were identified in exons 3 and 9 of EDNRB 2 gene in Chishui Black-bone chickens,of which two SNPs of g.11120193 T>C and g.11120382 C>T were found to exist in exon 3,and of which three SNPs of g.11125882 G>A,g.11125917 T>A and g.11125931 C>A were found to exist in exon 9.There were three genotypes of TT,TC and CC in g.11120193 T>C,and there were two genotypes of CC and CT in g.11120382 C>T,which belonged to samesense mutation.There were three genotypes of GG,AG and AA in g.11125882 G>A,which belonged to missense mutation(Gly→Glu).There were three genotypes of TT,AT and AA in g.11125917 T>A,which belonged to missense mutation(Phe→Ile).There were three genotypes of CC,AC and AA in g.11125931 C>A,which belonged to nonsense mutation.Five SNPs of EDNRB 2 gene had a total of 10 haplotypes and 24 diplotypes,with H4 and H4H4 being the dominant haplotype and diploty

关 键 词：赤水乌骨鸡 EDNRB2基因 单核苷酸多态性 肤色 关联分析 

分 类 号：S813.3[农业科学—畜牧学]