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摘要


瓜胺酸症是一種“尿循環”的遺傳缺陷疾病,雙隱性純合型的罹患仔牛在出生後一週內就會死亡。這種“尿循環”的遺傳缺陷無法正常排氨,剛出生的得病的仔牛外觀正常,然而仔牛出生後卻因為無法自行排毒,因此神經問題逐步嚴重,通常仔畜在一週內就會死亡。為了解瓜胺酸症在台灣牛隻之分布情形,本試驗共檢測七個牧場(北部三場及南部四場)與來自北部與東部地區參與DHI計畫的自留小公牛,全部共1,690頭荷蘭乳牛。採集血樣後,進行瓜胺酸症DNA基因型鑑定。在全部1,690頭荷蘭乳牛中僅檢測出1頭雜合型牛(0.06%),此外系譜比對近20年進口冷凍精液,亦僅發現1,200劑缺檢測資訊的可疑精液進口而已,顯示此一曾廣泛發生澳洲的荷蘭牛族群遺傳疾病,對本省乳牛影響不大。

並列摘要


Bovine citrullinemia is an autosomal recessive disorder in Holstein cattle that results in calf mortality. Affected calves are unable to get rid of ammonia and display neurological symptoms that become progressively worse, leading to death within one week of birth. For understanding the defect gene frequency of Taiwan Dairy cattle, a total of 1690 samples, Holstein cows and young bulls from different herds, were sampled and tested for genotypes of citrullinemia. With a mutation-specific assay of leukocyte DNA, one heterozygote cow was detected among all samples tested, corresponding to an incidence of 0.06%. With evidence of less than. 1% (1/1690 = 0.06%) carrier, citrullinemia, a serious genetic defect of Holsteins in Australia, is not a significant genetic disease in Taiwan.

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