大别山牛PAX3基因多态性及其与生长性状的关联分析

Polymorphism of PAX3 gene and its association with growth traits of Dabieshan cattle

【目的】探究PAX3基因多态性与大别山牛生长性状的相关性。【方法】采集292头安徽大别山成年(24~48月龄)母牛的耳组织,并测定其体尺数据,提取DNA后,通过PCR和测序技术鉴定出大别山牛群体中PAX3基因的多态性,利用POPGENE、Haploview和SHEsis软件,分别对多态位点进行遗传多样性、哈代-温伯格平衡和单倍型分析,利用SPSS 23.0软件分析其与生长性状的相关性。【结果】在大别山牛PAX3基因第4内含子中检测到3个SNPs位点(g.4718G>C、g.4744T>C和g.4757C>A),第6内含子中检测到1个SNPs位点(g.78920C>T),4个SNPs位点均存在3种基因型。遗传多样性分析发现,g.4718G>C位点属于低度多态(PIC≤0.25),g.4744T>C、g.4757C>A和g.78920C>T位点均属于中度多态(0.25<PIC≤0.50),且除g.4757C>A外,其余3个位点均处于哈代-温伯格平衡状态(P>0.05)。单倍型分析发现,4个SNPs位点间无强连锁相关(r^(2)<0.33),形成13种单倍型,其中频率大于0.03的单倍型有6个。相关性分析发现,g.4718G>C位点与大别山牛的十字部高显著相关(P<0.05);g.4744T>C位点与十字部高、腹围和腰角宽极显著相关(P<0.01);g.4757C>A位点与腰角宽显著相关(P<0.05);g.78920C>T位点与腹围极显著相关(P<0.01),与管围显著相关(P<0.05)。【结论】PAX3基因第4内含子的g.4718G>C、g.4744T>C和g.4757C>A位点以及第6内含子的g.78920C>T位点多态性与大别山牛群体部分生长性状具有显著或极显著的相关性,可以作为大别山牛遗传选育的候选分子标记。

【Objective】 The purpose of this study was to explore the correlation between PAX3 gene polymorphism and growth traits of Dabieshan(DBS) cattle.【Method】 Ear tissue and body measurement records of 292 DBS cattle at the age of 24-48 months were collected.DNA was extracted and polymorphisms of PAX3 gene were identified by PCR and sequencing.Genetic diversity, Hardy-Weinberg equilibrium and haplotype of polymorphisms of PAX3 gene were analyzed by POPGENE,Haploview and SHEsis software, respectively.Association between polymorphisms and growth traits was then explored by SPSS 23.0 analysis software.【Result】 Three SNPs(g.4718 G>C,g.4744 T>C and g.4757 C>A) were identified in intron 4 and one SNP(g.78920 C>T) was identified in intron 6 in the bovine PAX3 gene.The genetic diversity analysis showed that g.4718 G>C was low polymorphism(PIC≤0.25),while g.4744 T>C,g.4757 C>A and g.78920 C>T were moderate polymorphism(0.25<PIC≤0.50).Except for g.4757 C>A,other polymorphisms were in the state of Hardy-Weinberg equilibrium(P>0.05).Haplotype analysis showed that there was no strong linkage correlation between the 4 SNPs sites(r2<0.33),and 6 of the 13 identified haplotypes had frequencies of greater than 0.03.There were 3 genotypes at each SNP.Correlation analysis showed that g.4718 G>C was significantly associated with height at hip cross in DBS population(P<0.05),and g.4744 T>C had extremely significant association with height at hip cross, abdominal girt and hip width(P<0.01).The g.4757 C>A was significantly associated with hip width(P<0.05),and g.78920 C>T had extremely significant association with abdominal girth(P<0.01) and significant association with shin circumference(P<0.05).【Conclusion】 The polymorphisms of g.4718 G>C,g.4744 T>C and g.4757 C>A in intron 4 and g.78920 C>T in intron 6 had significant or extremely significant correlation with growth traits of DBS cattle, indicating that these SNP sites could be used as candidate molecular markers for genetic breeding in DBS cattle.