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Genetic Variation and Polymorphisms for the Promoter Region of the Procine Myostatin Gene

豬隻肌肉抑制基因啟動子區域遺傳變異及多態性研究

Abstracts


在牛隻,已知MSTN gene的突變會使牛隻形成雙肌的外表型(doubled muscled phenotype)。在豬隻MSTN gene啟動子區域435/447兩位點的多態性,可作為研究調控肌肉抑制蛋白表現及影響肌肉發育的候選遺傳標識(candidate genetic marker)。本試驗的主要目的,即希望藉由本研究能瞭解在臺灣不同品種豬隻MSTN gene啟動子區域435/447兩位點之遺傳變異及多態性。試驗結果顯示,在臺灣不同品種間豬隻MSTN gene啟動子區域435/447兩位點的確具有遺傳變異及多態性。利用DNA定序、TaqMan SNP基因型分析及PCR-RFLP等技術分析結果顯示,試驗豬隻MSTN gene啟動子區域435/447兩位點,可分別定出AA、AG及GG三種基因型;進一步結合此兩位點基因型,則可發現具GG/AA、GA/AG、AA/GG、AA/AG、GA/AA及AA/AA六種基因型,和435G/447A (B haplotype)、435A/而言,本試驗結果首次發現Landrace及Yorkshire兩豬種在MSTN gene啟動子區域435/447兩位點具完全不平衡連鎖現象(complete linkage disequilibrium);但在Duroc豬種則為部分(partially)不平衡連鎖現象。本試驗另以MSTN 435/477基因座作為遺傳標識,進行李宋豬(Lee-Sung pigs)遺傳類源分析,可發現最初用於進行李宋豬育種之藍瑞斯公豬其所具有之MSTN 435/447基因型應為MSTN 435G/447A而非MSTN 435A/447G單套體。綜合上述試驗結果,本報告所開發新的MSTN 435/447遺傳標識,初步顯示具有可區別中國及西方豬種的種別特異性,另外未來也可能作為評估豬隻肌肉生長之選拔遺傳標識。

Keywords

肌肉抑制基因 單套體 多態性

Parallel abstracts


In cattle and other species, mutations and polymorphisms of the myostatin (MSTN) gene are related to the ”double-muscled” phenotype. Polymorphisms in the MSTN promoter region at the 435 / 447 sites are candidate genetic markers for regulating myostatin expression and also for the myogenic process. The purpose of this study was to determine the genetic variations and polymorphisms of the porcine MSTN 435/447 sites in the promoter region. Our data showed polymorphisms in pig MSTN 435/447 sites varied among different pig breeds. The DNA sequencing, TaqMan SNP genotyping assays and PCR-RFLP results indicated three genotypes, AA, AG and GG were detected at the MSTN 435/447 sites. The MSTN promoter could be divided into the following six genotypes at the 435 and 447 sites, respectively; GG/AA, GA/AG, AA/GG, AA/AG, GA/AA and AA/AA. There were three haplotypes at these sites i.e., 435G/447A (B haplotype), 435A/447G (A haplotype) and 435A/447A (C haplotype). The MSTN 435AA / 447AA genotype and 435A / 447A haplotype were only found in the Chinese pig breeds (Sus vittatus ) and Duroc, whereas three genotypes, MSTN 435GG/447AA, GA/AG and AA/GG and two haplotypes, 435G/447A and 435A/447G were found in the Landrace and Yorkshire breeds. For the western breeds (Sus scrofa ), we not only found complete linkage disequilibrium in the Landrace and Yorkshire breeds, but also discovered a new (partially) incomplete linkage disequilibrium in the Duroc breed. In addition, using the MSTN 435/447 loci as a genetic marker in Lee-Sung pigs (a laboratory minipig derived from breeding Lanyu ♀ ×Landrace ♂ ), we determined the Landrace first used for Lee-Sung pig breeding carried the MSTN 435G/447A, but not the 435A/447G haplotype. In conclusion, we identified novel breed-specific genetic markers for Chinese pig breeds and for western pig breeds (except Duroc) that could be used in evaluating myogenic processes.

Parallel keywords

MSTN gene haplotype polymorphism porcine