<div data-page-id="doxcnpZwpdHBgNRAgk16Y69jtjb" data-docx-has-block-data="true"> <div class="ace-line ace-line old-record-id-doxcn8ISQ4YaCKokwoljCBe7Uzc" style="text-align: justify;"><span class="p"><strong>該研究強(qiáng)調(diào)了從母親那里遺傳的基因在兒童遺傳疾病中的作用，并提高了對此類疾病的理解。</strong></span></div> <div class="ace-line ace-line old-record-id-doxcn6m8cUaooUcCy8ukWhiirE6" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="image-uploaded gallery old-record-id-doxcnSeCAW4kYaSeOU5yzgX9vDb" style="text-align: justify;" data-type="image" data-ace-gallery-json="{&quot;items&quot;:[{&quot;uuid&quot;:&quot;3a632a7b-cd35-46d2-9c36-4bbcbc3026f5&quot;,&quot;height&quot;:1080,&quot;width&quot;:1920,&quot;currHeight&quot;:1080,&quot;currWidth&quot;:1920,&quot;natrualHeight&quot;:1080,&quot;natrualWidth&quot;:1920,&quot;pluginName&quot;:&quot;imageUpload&quot;,&quot;scale&quot;:1,&quot;src&quot;:&quot;https%3A%2F%2Finternal-api-drive-stream.feishu.cn%2Fspace%2Fapi%2Fbox%2Fstream%2Fdownload%2Fall%2Fboxcnt8UCdMliJZobgD03ktMHqf%2F%3Fmount_node_token%3DdoxcnSeCAW4kYaSeOU5yzgX9vDb%26mount_point%3Ddocx_image&quot;,&quot;file_token&quot;:&quot;boxcnt8UCdMliJZobgD03ktMHqf&quot;,&quot;image_type&quot;:&quot;image/jpeg&quot;,&quot;size&quot;:216003,&quot;comments&quot;:[]}]}"><span class="p"><img src="https://info.compassedu.hk/sucai/content/1658910133880/1658910133880.png" width="808" height="454" /></span></div> <div class="ace-line ace-line old-record-id-doxcnSMwq0Em2OWmQ6zmghGk9Sd" style="text-align: justify;"><span class="p"><em>Asst Prof Xue和她在新加坡國立大學(xué)的團(tuán)隊(duì)研究了母體SMCHD1基因突變對后代的影響。</em></span></div> <div class="ace-line ace-line old-record-id-doxcnasmQoYwkyeio687MYS8cGg" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnq6AOcimg0MKEu2m9aWSPke" style="text-align: justify;"><span class="p">胚胎的發(fā)育是一系列精心策劃的過程，確保生長中生物體的重要器官的正確形成和定位。在分子水平上，通過打開或關(guān)閉特定因素（如基因或蛋白質(zhì)）來精確地控制這些過程。這些過程中的任何錯(cuò)誤都可能導(dǎo)致新生生物體的身體缺陷或疾病。</span></div> <div class="ace-line ace-line old-record-id-doxcncwS6CO4qyWsSQvyJddK35e" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnOCUogQSYyUqqAHArtFdFxb" style="text-align: justify;"><span class="p">由生物科學(xué)系助理教授Sue Shifeng領(lǐng)導(dǎo)的新加坡國立大學(xué)（NUS）的一組科學(xué)家 通過研究由SMCHD1基因編碼的稱為SMCHD1的蛋白質(zhì)的遺傳，發(fā)現(xiàn)了一種解釋未解決的孟德爾疾病的新方法 - 由于發(fā)育中的卵子或精子中的基因突變而從父母那里遺傳的疾病 。<em>SMCHD1</em>基因的突變可引起諸如肌肉退行性疾病的面肩肱肌營養(yǎng)不良癥（FSHD）和導(dǎo)致鼻子和眼睛異常的Bosma arhinia microphthalmia綜合征（BAMS）等疾病。</span></div> <div class="ace-line ace-line old-record-id-doxcnca0g6UmGCIs26v3WnUbe4b" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnywoMmK8s6ygm8ZMiRFjSXg" style="text-align: justify;"><span class="p">研究人員發(fā)現(xiàn)，來自母親的SMCHD1控制著后代中一組基因的表達(dá)，稱為<em>HOX</em>基因，它決定了胚胎中身體部位從頭到尾沿軸線的位置。研究人員還發(fā)現(xiàn)，雌性斑馬魚中SMCHD1的失活導(dǎo)致<em>HOX</em>基因表達(dá)的改變，導(dǎo)致其后代的骨骼缺陷。</span></div> <div class="ace-line ace-line old-record-id-doxcnkiIqAu0GMccEMD1uFXZaTc" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcncAqogyqk6wYe89xCYRpvEe" style="text-align: justify;"><span class="p">該研究由新加坡國立大學(xué)研究人員與A* STAR，耶魯 - 新加坡國立大學(xué)和艾克斯 - 馬賽大學(xué)合作，于2022年6月23日發(fā)表在<em>Nature Communications</em>上。</span></div> <div class="ace-line ace-line old-record-id-doxcnkIs0EYY0kGwSucOfFBNNPd" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcngS8UAI2qsecSobT1A54SJb" style="text-align: justify;"><span class="p"><strong>母親基因的遺傳和結(jié)構(gòu)缺陷</strong></span></div> <div class="ace-line ace-line old-record-id-doxcnwUw226CIkQgEkFtfGmDXth" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcn6IAyQEAoSEuoQ3hgCEAQGe" style="text-align: justify;"><span class="p">在哺乳動物中，SMCHD1在雌性X染色體失活中起關(guān)鍵作用，這是一個(gè)隨機(jī)選擇和禁用X染色體拷貝的過程。這使得研究從母親那里遺傳的<em>SMCHD1</em>基因的作用具有挑戰(zhàn)性，因?yàn)闇缁?lt;em>SMCHD1</em>基因?qū)Υ菩圆溉閯游锸侵旅摹?lt;/span></div> <div class="ace-line ace-line old-record-id-doxcnIekwaY0AIwiUIjyZU46Zme" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnq6EcIIoO686MikshlMlNQO" style="text-align: justify;"><span class="p">研究小組決定使用斑馬魚，一種在生物醫(yī)學(xué)研究中通常用作模式生物的脊椎動物，來規(guī)避這個(gè)問題。斑馬魚缺乏X-失活，這使得研究小組能夠研究從母親那里遺傳的<em>SMCHD1</em>基因的作用。研究人員在斑馬魚中滅活了<em>SMCHD1</em>基因，以研究它將如何影響斑馬魚后代的基因表達(dá)和結(jié)構(gòu)發(fā)育。</span></div> <div class="ace-line ace-line old-record-id-doxcnMIE8mU6QCgYymAcIcfTpjg" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnwKuUo8wIg80UsH0OpvSMNg" style="text-align: justify;"><span class="p">新加坡國立大學(xué)的科學(xué)家觀察到，SMCHD1蛋白是由母親放入卵子中的。雌性斑馬魚中<em>SMCHD1</em>基因失活導(dǎo)致其受精卵中<em>HOX</em>基因表達(dá)的改變。<em>HOX</em>基因在確保嬰兒不同身體部位的特定模式和身份方面起著重要作用。<em>SMCHD1</em>基因的缺失導(dǎo)致<em>HOX</em>基因的過早激活，導(dǎo)致斑馬魚后代的骨骼圖案缺陷。</span></div> <div class="ace-line ace-line old-record-id-doxcnakyWsUomGckaohu0TU8Tcf" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnkq4Ma20GKYoE0SH60JKhHe" style="text-align: justify;"><span class="p">Asst Prof Xue和她的團(tuán)隊(duì)展示了一個(gè)新概念，即基因產(chǎn)物（例如來自母親卵子的蛋白質(zhì)）可以控制發(fā)育中的胚胎中發(fā)生的基因表達(dá)?？刂颇赣H在發(fā)育中的卵子中產(chǎn)生的基因表達(dá)的因素可以為卵子與精子受精后的適當(dāng)基因激活創(chuàng)造條件。通過進(jìn)一步的實(shí)驗(yàn)室研究，研究小組發(fā)現(xiàn)相同的原理也適用于哺乳動物。</span></div> <div class="ace-line ace-line old-record-id-doxcnoki8GWg6sGwIIL64NuO4Df" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="image-uploaded gallery old-record-id-doxcnWmig2OA2cw6Aqornmndbxf" style="text-align: justify;" data-type="image" data-ace-gallery-json="{&quot;items&quot;:[{&quot;uuid&quot;:&quot;8a554c94-8634-487c-a54d-fc48030a4083&quot;,&quot;height&quot;:1080,&quot;width&quot;:1920,&quot;currHeight&quot;:1080,&quot;currWidth&quot;:1920,&quot;natrualHeight&quot;:1080,&quot;natrualWidth&quot;:1920,&quot;pluginName&quot;:&quot;imageUpload&quot;,&quot;scale&quot;:1,&quot;src&quot;:&quot;https%3A%2F%2Finternal-api-drive-stream.feishu.cn%2Fspace%2Fapi%2Fbox%2Fstream%2Fdownload%2Fall%2Fboxcnw1TY4FwcMxt6yMSiU3OiLg%2F%3Fmount_node_token%3DdoxcnWmig2OA2cw6Aqornmndbxf%26mount_point%3Ddocx_image&quot;,&quot;file_token&quot;:&quot;boxcnw1TY4FwcMxt6yMSiU3OiLg&quot;,&quot;image_type&quot;:&quot;image/jpeg&quot;,&quot;size&quot;:452420,&quot;comments&quot;:[]}]}"><span class="p"><img src="https://o7m7mpmybq.feishu.cn/space/api/box/stream/download/asynccode/?code=ZGE4MjNlNTg2OGFmOTFiNTdkMmJjZDg3YTAwNzU2YmVfWGRJcEx5WjZUU1JOMUp6VHFybnA5V1RDYk0yNmZiOHdfVG9rZW46Ym94Y253MVRZNEZ3Y014dDZ5TVNpVTNPaUxnXzE2NTg5MTAwMjI6MTY1ODkxMzYyMl9WNA" width="808" height="454" data-single-block="true" data-snapshot="eyJ0eXBlIjoiaW1hZ2UiLCJwYXJlbnRfaWQiOiJkb3hjbnBad3BkSEJnTlJBZ2sxNlk2OWp0amIiLCJjb21tZW50cyI6W10sImxvY2tlZCI6ZmFsc2UsImhpZGRlbiI6ZmFsc2UsImF1dGhvciI6IjcxMTExMjM4Mjc2ODk1ODY2OTIiLCJhbGlnbiI6ImNlbnRlciIsImltYWdlIjp7InRva2VuIjoiYm94Y253MVRZNEZ3Y014dDZ5TVNpVTNPaUxnIiwibWltZVR5cGUiOiJpbWFnZS9qcGVnIiwic2l6ZSI6NDUyNDIwLCJzY2FsZSI6MSwid2lkdGgiOjE5MjAsImhlaWdodCI6MTA4MCwibmFtZSI6ImJveGNudzFUWTRGd2NNeHQ2eU1TaVUzT2lMZy5qcGcifX0=" 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old-record-id-doxcnoKeA0QYSImMqOK6dgagJ8g" style="text-align: justify;"><span class="p"><strong>解讀未解決的遺傳病</strong></span></div> <div class="ace-line ace-line old-record-id-doxcn6AemcYGaIqugaGIpNVWoEh" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnu6eEQKackWeqkNFNlP1Zrh" style="text-align: justify;"><span class="p">這項(xiàng)研究的結(jié)果可能會改變對未解決的孟德爾疾病的解釋方式?；谶@項(xiàng)研究，父母的一些遺傳異?？赡鼙憩F(xiàn)在他們的孩子身上，這為通過檢查父母的遺傳構(gòu)成來解釋兒童中出現(xiàn)的出生缺陷提供了可能性。</span></div> <div class="ace-line ace-line old-record-id-doxcnssIOiEgqGmQ6KQ4KBaKoog" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnK8wMmwwace4eOW1poSNG3b" style="text-align: justify;"><span class="p">&ldquo;當(dāng)我們想到遺傳疾病時(shí)，我們通常認(rèn)為是病人的突變導(dǎo)致了這種疾病。在我們的研究中，我們發(fā)現(xiàn)使用斑馬魚，后代的異常不是由個(gè)體的基因突變引起的，而是由其母親引起的。這將改變我們對未解決的遺傳性疾病的看法，&ldquo;薛副教授說。</span></div> <div class="ace-line ace-line old-record-id-doxcncoa4Q2iuy2sse8dtB4CTQh" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnaAMWMkOYcAGY4CWllPFLhd" style="text-align: justify;"><span class="p"><strong>未來研究</strong></span></div> <div class="ace-line ace-line old-record-id-doxcnqkkEU2mOcseo2LJfH2yIFg" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnAqcuMWK2qQOiGEraoKyBId" style="text-align: justify;"><span class="p">根據(jù)他們目前的研究，研究人員希望繼續(xù)探索在分子水平上，母體基因如何在出生后控制胚胎基因表達(dá)。</span></div> <div class="ace-line ace-line old-record-id-doxcnw642sKuYAUkO2jVC5Mupdh" style="text-align: justify;"><span class="p">&nbsp;</span></div> <div class="ace-line ace-line old-record-id-doxcnK0Oo0KuOSuAiauSl37LUMg" style="text-align: justify;"><span class="p">&ldquo;我們想了解，從分子上講，母體<em>SMCHD1</em>基因在后代的基因組上留下了什么標(biāo)記，這些標(biāo)記會影響胚胎。我們也有興趣研究SMCHD1蛋白，它與不同疾病有關(guān)的突變，以及它是如何工作的，&ldquo;Asst Professor Xue分享道。</span></div> </div>