山羊黏多醣症遺傳缺陷之DNA檢測

DNA typing of inherited deficiency of capring mucopolysaccharidosis. IIID

林德育(Der-Yuh Lin) ； 黃鈺嘉(Yu-Chia Huang) ； 陳若菁(Jo-Ching Chen) ； 魯學智(G. Lu) ； 黃政齊(J. C. Huang) ； 張秀鑾(Hsiu-Luan Chang)

《畜產研究》 37卷3期 (2004/09) Pp. 223-232

摘要

山羊黏多醣症（mucopolysaccharidosis）第三型，俗稱G6S，是一種遺傳缺陷所導致的代謝性疾病。為瞭解該遺傳缺陷在台灣羊隻的概況，並確認其遺傳模式，第一階段以1998年採集東部某一種羊場的努比亞山羊種羊20頭（2公18母）、吐根堡山羊20頭（4公16母）及台灣土山羊21頭（1公20母）血樣DNA，共計61個樣品進行G6S檢測，初步結果在努比亞山羊中高達25%（5/20）帶有此不良基因（雜合型），而在所有檢測樣品中吐根堡山羊與台灣土山羊皆為正常型。第二階段再採集該場2002年全場93頭純種努比亞山羊與96頭含努比亞山羊血統的雜交羊（努比亞山羊與台灣土山羊）進行檢測，結果顯示，高達24.3%（23/93）純種努比亞山羊為雜合型個體，3.1%（3/96）含努比亞山羊血統的雜交羊為雜合型個體，但未發現有病型（隱性純合型）個體，進一步分析各項系譜資料，結果支持G6S屬簡單隱性遺傳模式。努比亞山羊在台灣肉用山羊生產體系中扮演雜交與級進的重要角色，有病型的山羊體型小、發育遲滯，影響整體肉用山羊的生產效率。藉由G6S簡單隱性遺傳模式特質篩檢淘汰雜合型種公畜可快速降低此不良基因頻度，但是全面清除此一不良基因仍需全面篩檢努比亞種母羊群方可達成。

關鍵字

山羊 ； 黏多醣症 ； 遺傳缺陷

並列摘要

Caprine Mucopolysaccharidosis IIID, or N-acetylglucosamine 6-sulfatase deficiency (G6S), is a recessive inherited disorder of goat. Affected kids not only grow slower but also has more health problems than the normal ones. In order to get the clue of impact of G6S, a total of 61 DNA samples, collected in 1998(Phase I) from a goat farm of eastern Taiwan, were tested first. Samples represented Nubian (20,18 females and 2 males), Toggenburg (20,16 females and 4 males) and Taiwan native goat (21,20 females and 1 male). Five carrier goats were found in 20 Nubian and the frequency was 25%. No carriers were found in Toggenburg or Taiwan native goats. Larger scale screening were performed by 199 blood DNA samples from all pure and hybrid Nubian goats' of the farm in Aug. 2002 (Phase II). The frequency of carrier was 24.3% (23/93) explaining the risk of high frequency of G6S of pure Nubians existed. And 3.1% hybrid Nubian goats crossed from Nubian and Taiwan native goat were carrier of G6S. No affected goat, homozygous recessive, were found in this trial. Further pedigree tracing and statistical test supported that G6S followed the simple recessive inheritance pattern. As Nubian is one of the major crossbreeding and upgrading breeds for meat goat production in Taiwan, G6S influences Taiwan meat goat production tremendously. Testing genotype of Nubian bucks and culling carriers can quickly decrease the defect gene frequency. For a completely cleaning the defect gene, genotyping Nubian does need to be arranged in the Nubian population.

並列關鍵字

Caprine ； Mucopolysaccharidosis ； Genetic deficiency