犬貓遺傳資訊站

OFA基因檢測流程 (4) - 送檢與檢測結果說明

^在取樣完成後，FTA卡風乾約一天，就可以把FTA卡放回小信封，準備郵寄，記得訂購證明也要一起寄回喔！

我自己是還用一層塑膠套密封，避免運送過程受潮或污染。

^最方便的方是就是直接到全家便利商店，跟店員拿UPS的信封和單子回家填寫。

記得郵寄資料可以照著訂購證明上的貼紙，用"手寫"。因為郵寄單是複寫紙，貼貼紙下面會沒有資料喔。

我的是錯誤示範，後來又重寫一張。

信封裝好，就可以直接拿到全家寄，郵資大概是550塊台幣，一個信封應該可以裝五六個人的FTA資料沒問題。

^UPS很方便，妳可以把單號直接輸入網站，就知道東西寄到哪裡了。檢驗樣本大約三天就會寄到密蘇里大學。

^約一個禮拜後，直接從OFA網站就可以查到檢驗結果了。

泡泡跟多力都是中標，屬於高風險群，所以就看運氣怎麼樣了！

^正式的報告約一個月後會收到

^有簡單的結果和一張結果說明書

^A/A表示基因的兩個copy都有DM突變，將來會有得到DM的高風險。

以下是我把檢驗結果說明先翻譯成中文，我知道大家看完會有很多疑問， 所以請稍安勿躁，我會在下一篇一次說明。

Normal正常 (N/N)

This dog is homozygous N/N, with two normal copies of the gene. In the seven breeds studied at the University of Missouri in depth so far, dogs with test results of N/N (Normal) have never been confirmed to have DM. This dog can only transmit the normal gene to its offspring, and it is unlikely that this dog or its offspring will ever develop DM.

這隻狗的結果是(N/N)，表示染色體上的兩個DM基因是正常的。依據密蘇里大學針對七個品種所做的研究，檢驗結果是N/N (正常)的狗，從來沒有被確診為DM的病例，但這不代表這隻狗或其後代絕不會得到DM。

Carrier (A/N)

This dog is heterozygous A/N, with one mutated copy of the gene and one normal copy of the gene, and is classified as a carrier. In the breeds studied at the University of Missouri in depth so far, dogs with test results of A/N have never been confirmed to have DM. While it is highly unlikely this dog will ever develop DM, this dog can transmit either the normal gene or the mutated gene to its offspring. 

這隻狗的檢驗結果是異型合子A/N，帶有一個DM突變基因與一個DM正常基因，這個類型被歸類為帶突變基因者。依據密蘇里大學的研究，檢測結果為A/N的狗，從來沒有被確診為DM的病例。即使這個類型的狗得到DM的可能不高，但這隻狗可以把正常及突變的基因傳給牠的後代。

At-Risk (A/A)

This dog is homozygous A/A, with two mutated copies of the gene, and is at risk for developing Degenerative Myelopathy (DM). The research has shown that all dogs in the research study with confirmed DM have had A/A DNA test results, however, not all dogs testing as A/A have shown clinical signs of DM. DM is typically a late onset disease, and dogs testing as A/A that are clinically normal may still begin to show signs of the disease as they age. Some dogs testing A/A did not begin to show clinical signs of DM until they were 15 years of age. Research is ongoing to estimate what percentage of dogs testing as A/A will develop DM within their lifespan. At this point, the mutation can only be interpreted as being at risk of developing DM within the animal’s life. For dogs showing clinical signs with a presumptive diagnosis of DM, affected (A/A) test results can be used as an additional tool to aid in the diagnosis of DM. Dogs testing At-Risk (A/A) can only pass the mutated gene on to their offspring.

這隻狗的檢測結果是A/A，表示這隻狗的兩個DM基因都發生突變，所以有得到DM的風險。研究結果已經顯示，所有被確診為DM的狗，檢測結果都是A/A，但不是所有檢測結果為A/A的狗，都表現出DM的臨床症狀。DM是一種典型的晚發性疾病，所以如果檢測結果是A/A，但卻沒有出現DM臨床症狀的狗，仍然可能在年老時，出現DM的症狀。有一些檢測為A/A的狗，一直到15歲都還未出現DM的臨床症狀。研究仍在持續進行中，希望可以評估有多少比率被診斷為A/A的狗，會在一生中發生DM病變。因此，這個基因突變目前只能被解釋為，會增加犬隻得到DM的風險。在顯現出DM徵狀的狗中，A/A型檢測結果可以成為附加的工具，來幫助DM確診。檢測結果為A/A的狗，後代都將遺傳到一個DM突變基因。

最後，OFA送了一張語重心長的貼紙，一起送給大家!

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下一篇：DM檢測Q&A與繁殖建議