HMX1基因多态性与绵羊先天小耳畸形的相关性分析  

Correlation Analysis Between HMX1 Gene Polymorphism and Congenital Small Ear Deformity in Sheep

作　　者：任亭亭 任思睿 韩冰 蒋芳芳 刘明军 贺三刚 REN Tingting;REN Sirui;HAN Bing;JIANG Fangfang;LIU Mingjun;HE Sangang(College of Animal Science,Xinjiang Agricultural University,Urumqi 830052;Xinjiang Key Laboratory of Animal Biotechnology,Key Laboratory of Herbivorous Livestock Genetics,Breeding and Reproduction,Ministry of Agriculture,Institute of Biotechnology,Xinjiang Academy of Animal Science,Urumqi 830011)

机构地区：[1]新疆农业大学动物科学学院,新疆乌鲁木齐830052 [2]新疆畜牧科学院生物技术研究所,农业农村部草食家畜遗传育种与繁殖重点实验室,新疆动物生物技术重点实验室,新疆乌鲁木齐830011

出　　处：《家畜生态学报》2024年第8期16-21,共6页Journal of Domestic Animal Ecology

基　　金：国家自然科学基金项目(31960651)。

摘　　要：为研究HMX1基因的SNPs多态性及其增强子突变与绵羊先天小耳畸形之间的关系,采用琼脂糖凝胶电泳结合PCR测序技术对170只阿勒泰羊HMX1基因的增强子、外显子的多态性进行检测,并与先天小耳畸形进行关联分析。结果表明:在HMX1基因的外显子1和2中共鉴定出24个SNPs,其中A557T与绵羊先天小耳畸形显著相关(P<0.05);在HMX1的基因增强子中发现存在76 bp的复制,与绵羊先天小耳畸形极显著相关(P<0.01)。研究结果显示,HMX1基因增强子区76 bp复制可能是导致阿勒泰绵羊先天小耳畸形的致因突变,这一发现为阿勒泰羊先天小耳畸形的分子诊断和遗传改良提供了潜在的标记。In order to study the relationship between SNPs polymorphism of HMX1 gene and its enhancer mutation and the ovine congenital microtia of sheep,the polymorphism of enhancer and exon in HMX1 gene of 170 Altay sheep was detected by agarose gel electrophoresis combined with PCR sequencing technology.The results showed that 24 SNPs were found in exon 1 and exon 2 of HMX1 gene,and A557T was significantly associated with congenital microtia in sheep(P<0.05);76bp replication was found in HMX1 gene enhancer,which was significantly associated with congenital microtia in sheep(P<0.01).The results showed that the replication of 76 bp in enhancer of HMX1 gene is the causal mutation of congenital microtia in Altay sheep,which could be used as a molecular marker to eliminate congenital microtia in Altay sheep.

关 键 词：阿勒泰羊 先天小耳畸形 HMX1基因 SNP 增强子 

分 类 号：S826.2[农业科学—畜牧学]