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隱性遺傳病基因檢測

隱性遺傳病基因檢測

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隱性遺傳病基因檢測

#6zqx5ocn6yg65ykz55ef5z65zug5qqi5ris·0 followers·1 articles
隱性遺傳病基因檢測
hkweb資訊網
hkweb資訊網
hkwebblog.hashnode.dev·Aug 14, 2025
Aug 14, 2025

什麼是脆性x綜合癥?脆性x綜合癥對下一代的危害有多大

脆性X綜合癥(Fragile X Syndrome,FXS)是一種常見的X-連鎖遺傳病,發病率僅次於唐氏綜合癥,是引起遺傳性智力低下和孤獨症譜系障礙最常見的單基因病,主要由於位於Xq27.3的FMR1基因突變導致。 FMR1基因1號外顯子上的5’非翻譯區有一段CGG三核苷酸串聯重複序列,超過95%以上的脆性X綜合癥是由於X染色體上的FMR1基因1號外顯子上的5’非翻譯區(UTR)(CGG)n三核苷酸重複擴增的動態突變和異常甲基化,造成其編碼的脆性X染色體智力遲鈍蛋白(FMRP)合成減少或缺失,從...

什麼是脆性x綜合癥?脆性x綜合癥對下一代的危害有多大
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隱性遺傳病基因檢測

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