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中國畜牧學會會誌
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中文摘要
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。FXID 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。
英文摘要
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 FXID genotyping method and conditions were confirmed, and then 541 DNA samples were identified. 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 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.