第四十八卷(2019)
95.努比亞山羊黏多醋症基因型之即時聚合晦鏈鎖反應檢測方法應用
朱家德 (1) 林德育 (1) 賴永裕 (1) 陳若菁 (1) 吳明哲 (1) 張秀鑾 (2)
(1) 行政院農業委員會畜產試驗所 (2) 國立屏束科技大學
黏多醋症（Mucopolysaccharidosis），簡稱為 MPS，為一種體內缺乏可代謝黏多醋的 酵素，造成過量黏多醋堆積在組織與尿液中而導致的遺傳性代謝異常疾病。除人類有 黏多醋症外，多種動物亦有案例發生。目前，山羊的黏多醋症是屬於 MPS IIID 型（相 當於人類黏多醋症第三型聖菲利柏氏症 D 型），僅有努比亞（Nubian）品種山羊的 GNS（N-acetylglucosamine-6-sulphatase, 又稱 G6S）基因的單點突變為隱性基因遺 傳，在 G6S cDNA 第 322 個核苦酸有一突變點（C → T）。有病型個體會因此遺傳缺 陷而導致早期死亡或因生長不良而淘汰。運用分子標記選拔淘汰不利動物生長發育之 遺傳缺陷為提升遺傳改進之關鍵技術。本研究運用即時聚合晦鏈鎖反應模式，以螢光 標記 KASP 基因型檢測技術，分析判斷奴比亞山羊黏多醋症之正常型及有病型個體。
關鍵語：山羊、黏多醋症、即時聚合晦鏈鎖反應
Diagnosis of caprine mucopolysaccharidosis type IIID by the applicaton of Real-time PCR platform
C. T. Chu(1), D. Y. Lin(1), Y. Y. Lai(1), J. C. Chen(1), M. C. Wu(1) and H. L. Chang(2)
(1) Taiwan Livestock Research Institute (2) National Pingtung University of Science and Technology
Mucopolysaccharidosis refers to a group of inherited conditions in which the body is unable to properly breakdown mucopolysaccharides. As a result, these sugars buildup in cells and connective tissue, leading to a variety of health problems. Besides the Mucopolysaccharidosis found in human, there were plenty of cases found in different animals. The mucopolysaccharidosis type IIID disorders are lysosomal storage diseases. In Nubian goat MPS IIID, the G6S deficiency is associated with a single mutation, changing a C to T in the 322 nucleotide of the G6S cDNA sequence. The consequent lack of G6S activity in goats leads to the primary accumulation of uncatabolized HS-GAGs in lysosomes. The critical technique to improve genetic progress is making use of simple marker assay to cull the genetic defect, which might affect the growth performance in animals. This study is to apply Kompetitive Allele-Specific PCR (KASP) for the identification of homozygote and heterozygote in Caprine MPS IIID.
Key Words: Nubian goat, G6S, Real-time PCR
  
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