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RNA Sequencing

 

DNA會先做成RNA,RNA再做成蛋白,像這樣:

基因表現- Wikiwand

 

某些特殊情形無法檢驗出DNA哪裡出錯,但是RNA卻做錯了,就可以用RNA Sequencing診斷:

The prevalent deep intronic c. 639 + 919 G > A GLA mutation causes  pseudoexon activation and Fabry disease by abolishing the binding of  hnRNPA1 and hnRNP A2/B1 to a splicing silencer - ScienceDirect

RNA Sequencing是很厲害又很先進的工具,本單位目前為衛生福利部國民健康署遺傳性及罕見疾病指定檢驗機構,並已取得TAF ISO15189醫學實驗室認證,本單位已有多年基因分析的經驗,可以來電諮詢或詢問價錢,電話02-28712121-8485。

 

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