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关节无力表型相关候选基因 MMP3、TGFβ1 和 COL10A1 的关联与表达分析。

Association and expression study of MMP3, TGFβ1 and COL10A1 as candidate genes for leg weakness-related traits in pigs.

机构信息

Institute of Animal Science, Animal Breeding and Husbandry Group, University of Bonn, Endenicher allee 15, 53115, Bonn, Germany.

出版信息

Mol Biol Rep. 2012 Apr;39(4):3893-901. doi: 10.1007/s11033-011-1168-5. Epub 2011 Jul 8.

DOI:10.1007/s11033-011-1168-5
PMID:21739142
Abstract

The present study was aimed to determine the association between metalloproteinase 3 (MMP3), transforming growth factor beta 1 (TGFβ1) and collagen type X alpha I (COL10A1) gene polymorphisms with traits related to leg weakness in pigs. Three hundred Duroc × Pietrain cross breds (DuPi) and 299 pigs of a commercial population (CP) were used for the experiment. DuPi animals were examined for 10 different traits describing leg and feet structure, osteochondrosis (OC) scores and bone density status. Data of OC score at condylus medialis humeri, condylus medialis femoris and distal epiphysis ulna regions of CP were used for association analysis. Significant association (P < 0.05) was found for MMP3 SNP (g.158 C>T) with OC at head of femur and bone mineral density in the DuPi population. Association (P < 0.05) was found between SNP of TGFβ1 (g.180 G>A) with rear leg score and the principle component denoting both OC and feet and leg scores in the DuPi population. No association was found between COL10A1 (g.72 C>T) and leg weakness related traits. The associations of SNPs with OC traits could not be confirmed in the commercial population. Expression analysis of the three candidate genes was performed to compare between healthy and OC. TGFβ1 was found to be highly expressed (P < 0.05) in the OC compared to healthy cartilages, but no significant different expressions were observed for MMP3 and COL10A1 genes. The present finding suggested that TGFβ1 and MMP3 genes variants have an effect on some of the leg weakness related traits.

摘要

本研究旨在确定基质金属蛋白酶 3 (MMP3)、转化生长因子 β1 (TGFβ1) 和胶原 X 型 α I 基因 (COL10A1) 多态性与猪腿部无力相关性状的关系。使用 300 头杜洛克 × 皮特兰杂交猪 (DuPi) 和 299 头商品猪 (CP) 进行实验。对 DuPi 动物进行了 10 种不同性状的检查,这些性状描述了腿部和脚部结构、骨软骨病 (OC) 评分和骨密度状况。CP 中肱骨头、股骨髁和尺骨远端骺部的 OC 评分数据用于关联分析。在 DuPi 群体中,MMP3 SNP (g.158 C>T) 与股骨头部的 OC 和骨密度显著相关 (P < 0.05)。在 DuPi 群体中,TGFβ1 SNP (g.180 G>A) 与后腿评分以及表示 OC 和脚部和腿部评分的主成分之间存在关联 (P < 0.05)。COL10A1 (g.72 C>T) 与腿部无力相关性状之间没有关联。在商业群体中,没有发现 SNP 与 OC 性状之间的关联。对三个候选基因进行表达分析,以比较健康和 OC 之间的差异。与健康软骨相比,OC 中 TGFβ1 的表达水平显著升高 (P < 0.05),但 MMP3 和 COL10A1 基因的表达水平没有显著差异。本研究结果表明,TGFβ1 和 MMP3 基因变异对一些腿部无力相关性状有影响。

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