ETV6/AML1融合基因 t(12;21) 探針

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ETV6/AML1融合基因 t(12;21) 探針

   本試劑盒主要用于ETV6/AML1融合基因 t(12;21) 的檢測，里面包括即用型雜交液和DAPI復染劑。
本試劑盒僅供科研使用。

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ETV6/AML1融合基因 t(12;21) 探針

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【公司名稱】 廣州健侖生物科技有限公司
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【公司地址】 廣州清華科技園創新基地番禺石樓鎮創啟路63號二期2幢101-3室

【企業文化宣傳】ETV6/AML1融合基因 t(12;21) 探針

通過篩選小鼠體內影響神經細胞遷移的基因突變，科學家們發現一個基因在神經細胞內蛋白運輸過程中發揮關鍵作用?？茖W家們發現如果正在發育的小鼠缺少這個基因表達的蛋白，它的大腦就會出現嚴重缺陷。通過研究該基因突變在人類中的情況，科學家們發現相同基因的突變導致了神經退行疾病。一個旨在將分子生物學家和臨床遺傳學家在一起的信息數據庫將實驗室和病人之間緊密在了一起：一個來自西歐國家的年輕患者成為了四兄弟中*一個受到該基因突變影響的人；神經退化、認知缺陷和痙攣限制了他對外界刺激產生反應或者控制肌肉的能力，他的一長串癥狀列表中還出現了癲癇。他在19歲就qushi了。

圖片來源：Research Institute of Molecular Pathology

維也納分子病理學研究所（IMP）David Keays實驗室的科學家們發現這個病人就是他們研究拼圖的zui后一個板塊。在他們臨床遺傳學家之前很久，就開始在小鼠體內篩選對神經遷移有影響的基因突變。

脊椎動物的大腦發育強烈依賴于神經細胞正確的產生、遷移、分化和生存。所有這些過程都需要很多基因及其表達的蛋白協同作用，其中任何一個基因突變都可能影響神經細胞的功能。通過生物化學方法誘導基因突變，科學家們發現Vps15是神經正常發育必需的一個基因，相關研究成果于近日發表在《Nature Neuroscience》上。

“它幾乎是一個不可能的候選基因。”該研究*作者Thomas Gstrein說道。“人類有超過20000個基因，沒有人能猜到Vps15會有這個作用，你不可能只通過Vps15就創造出大腦。

只有通過大量的篩選（與哈佛大學的研究人員合作），科學家們才找除了這個特殊的基因。

隨后他們檢測了小鼠大腦由于該基因突變產生的特征，并研究了Vps15在大腦發育中發揮作用的分子機制——將它與其他形成細胞骨架的蛋白在了一起。他們發現背后的分子機制之后，他們就轉向了Genematcher——一個將他們與臨床遺傳學家在一起的數據庫，該遺傳學家有一個病人同源Vps15基因上出現了突變，這個病人也還有神經退行性疾病。

通過檢查這個病人、他的兄弟姐妹以及他的父母，研究人員確定Vps15突變使得其表達的蛋白減少，從而引起了神經發育缺陷。在他們的文章中，他們指出Vps15也許在其他神經疾病中也發揮重要作用，如精神分裂癥和自閉癥，研究人員呼吁在未來的研究中要更加關注這個基因。

By screening the gene mutation that affects the migration of nerve cells in mice, scientists found that a gene plays a key role in the transport of proteins in nerve cells. Scientists have found that if the developing mice lack the protein expressed by the gene, the brain will have serious defects. By studying the mutation of the gene in humans, scientists have found that mutations in the same gene have led to neurodegenerative disease. A molecular biologist and clinical geneticists to be linked to the information database between the laboratory and the patient closely together: one from Western Europe to become the four brothers in the young patients with only one by the gene mutations affecting people; ability of neural degeneration, cognitive deficits and spasm restricted him to external stimuli respond or muscle control, also appeared in his long list of symptoms of epilepsy. He died at the age of 19.

Image source: Research Institute of Molecular Pathology

Scientists at the David Keays laboratory at the Vienna Institute of molecular pathology (IMP) found that the patient was the last plate they studied in the jigsaw puzzle. Long before they contacted clinical geneticists, they began screening gene mutations that affect the migration of nerves in mice.

The brain development of vertebrates is strongly dependent on the correct generation, migration, differentiation and survival of the nerve cells. All these processes require a synergistic effect of many genes and their expressed proteins, of which any gene mutation may affect the function of neural cells.  By inducing gene mutation by biochemical methods, scientists found that Vps15 is a necessary gene for normal neural development. The related research results were published in Nature Neuroscience recently.

"It is almost an impossible candidate gene." Thomas Gstrein, the first author of the study, said. "There are more than 20000 genes in humans, and no one can guess that Vps15 will have this effect, and you can't create the brain only through Vps15.

Only through a lot of screening (collaborating with researchers at the Harvard University), scientists are looking for this particular gene.

Then they detected the characteristics of the mouse brain due to the mutation of the gene, and studied the molecular mechanism of Vps15's role in brain development, linking it to other proteins that form cytoskeleton. After they found the molecular mechanisms behind, they turned to Genematcher, a clinical geneticist and they will be linked to the database, the geneticists have a patient appeared on the homologous Vps15 gene mutation, the patient and neurodegenerative diseases.

By examining the patient, his siblings, and his parents, the researchers determined that the Vps15 mutation reduced the protein expressed, resulting in neurodevelopmental deficits. In their articles, they pointed out that Vps15 may also play an important role in other neurological diseases, such as schizophrenia and autism. Researchers call for more attention in the future research.