臨床検査49巻1号

2005年01月発行

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今月の主題 ミトコンドリア病 ミトコンドリア病の臨床検査

ミトコンドリア遺伝子A3243G変異の高感度検出法―Peptide Nucleic Acid-assisted allele-specific Polymerase Chain Reaction法

著者： 浦田美秩代¹ 栢森裕三² 濱﨑直孝³

所属機関： ¹九州大学病院検査部遺伝子検査室 ²九州大学病院検査部 ³九州大学大学院医学研究院臨床分子医学

ページ範囲：P.66 - P.70

〔SUMMARY〕　ミトコンドリア遺伝子変異のなかで，MELASや糖尿病の原因として知られるA3243G変異の検出は診断的な価値が大きい．A3243G変異は同一細胞内に正常型と異常型が共存しており，しかも，検査材料として使用される末梢血白血球ではその変異率が低いために，測定法としては高感度な方法が望まれている．本稿では，2004年にわれわれが開発したA3243G変異の簡便で高感度な定量法を紹介する．〔臨床検査　49：66-70，2005〕

参考文献

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