第四十六卷(2017)
乳牛第11凝血因子缺失症基因型頻率分析
廖仁寶(1) 陳若菁(1) 林秀蓮(1) 蔡新興(1) 黃金山(1) 楊德威(1) 蕭宗法(1) 陳水財(1) 陳志毅(1) 李國華(1) 賈玉祥(1) 張秀鑾(2) 吳明哲(1)
(1)行政院農業委員會畜產試驗所 (2)國立屏東科技大學動科學與畜產系
乳牛第11凝血因子缺失症（FXID）為一種隱性遺傳疾病，此病症源於位在第27號染色體上的第11凝血因子基因exon 12插入了一個76-bp的DNA片段，因而造成原有蛋白質功能喪失。本研究自6場乳牛場分別收集16、92、63、112、145及113頭乳牛血液樣品，並萃取其DNA後冷凍保存備用。檢測方法與條件經確認後，再進行541頭乳牛DNA樣品之基因檢測，結果發現3個樣品基因型為雜合型，其餘皆為正常型，雜合型頻率為0.55%，低於波蘭（2.9%）、土耳其（1.8%）及美國（1.2%）的研究報告。此3頭雜合型牛隻來自同一乳場，且該場非種牛場。儘管FXID雜合型頻率甚低，但仍有嚴密監控之必要，以防止此一不良基因經由進口冷凍精液或活體牛隻持續進入我國乳牛族群。
關鍵語：第11凝血因子、遺傳缺陷、基因型
Frequency of factor XI deficiency genotype of dairy cows
R. B. Liaw(1), J. C. Chen(1), H. L. Lin(1), S. S. Tsay(1), C. S. Huang(1), D. W. Yang(1), T. F. Shiao(1), S. T. Chen(1), J. Y. Chen(1), K. H. Lee(1), Y. S. Jea(1) H. L. Chang(2) and M. C. Wu(1)
(1)Livestock Research Institute, Council of Agriculture, Executive Yuan (2)Department of Animal Science, National Pingtung University of Science and Technology
The bovine factor XI deficiency (FXID) is a recessive genetic disorder caused by a 76-bp DNA fragment inserted to FXI exon 12 on bovine chromosome 27, resulting in a loss of protein function. In this study, 16, 92, 63, 112, 145 and 113 dairy cow blood samples were collected from six dairy farms, and the DNA was extracted and stored. After the identification method and conditions were confirmed, and then 541 DNA samples were examined. The results showed that the genotypes of the three samples were carriers and the others were normal. The carrier frequency was 0.55% lower than those of Poland (2.9%), Turkey (1.8%) and the United States (1.2%). The three carrier cattle were from the same farm, and fortunately, it is not a breeding farm. Although the FXID carrier frequency is very low, it still needs to closely monitor the imported frozen semen or live cattle and prevent this defective gene transmitting to cattle population continuously.
Key Words: Factor XI, Genetic defect, Genotype
  
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