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NA12878試劑：揭秘其主要成分與應用
發(fā)布時間： 2025-02-26 點擊次數(shù)： 1114次在基因組學研究的廣闊天地中，NA12878試劑以其特殊的優(yōu)勢和廣泛的應用領域，成為了科研人員手中的得力助手。這款試劑的核心成分——來自特定健康個體的全基因組DNA樣本，不僅具有高度的代表性和穩(wěn)定性，還承載著豐富的遺傳信息，為各類基因組學研究提供了堅實的基礎。NA12878試劑的主要成分是來自一個具有北歐和西歐血統(tǒng)的猶他州居民的全基因組DNA。這份DNA樣本經(jīng)過精心提取和純化，確保了其高質(zhì)量和完整性。作為Coriell人類基因組DNA標準品之一，NA12878在基因組測序、基因突變檢測、單核苷酸多態(tài)性（SNP）分析等領域展現(xiàn)出了杰出的性能。值得注意的是，該產(chǎn)品中的DNA樣本在CYP2C19基因上存在特定的變異。具體而言，該樣本在CYP2C19基因的外顯子19處存在一個單次堿基對（G-to-A）的轉(zhuǎn)變，這一變異導致了異常的剪接位點和截短的蛋白質(zhì)產(chǎn)生。這種截短的蛋白質(zhì)由于缺少血紅素結合區(qū)而具有催化失活性，為藥物代謝和個體化用藥研究提供了重要的參考信息。除了CYP2C19基因的變異外，產(chǎn)品中的DNA樣本還包含了人類基因組的完整信息。這使得它成為基因組學研究、疾病關聯(lián)分析、遺傳病診斷等領域的理想選擇。科研人員可以利用NA12878試劑進行高通量測序、芯片分析等多種實驗技術，從而揭示遺傳變異與疾病之間的關系，為精準醫(yī)療和個體化治療提供科學依據(jù)。
綜上所述，NA12878試劑以其高質(zhì)量的全基因組DNA樣本和特定的基因變異信息，在基因組學研究領域發(fā)揮著舉足輕重的作用。隨著科技的不斷發(fā)展，它的應用前景將更加廣闊，為人類的健康事業(yè)貢獻更多的智慧和力量。
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