臨床検査54巻13号

2010年12月発行

今月の主題 遺伝子検査の最近の展開－ヒトゲノム多様性と医療応用 各論

造血器腫瘍の遺伝子検査

著者： 小松則夫¹

所属機関： ¹順天堂大学血液内科

ページ範囲：P.1631 - P.1640

　JAK2 V617F(V617F)は古典的骨髄増殖性腫瘍(cMPN)である真性多血症，本態性血小板血症，原発性骨髄線維症に共通してみられる遺伝子変異で，これらの病態に深く関与している．2008年に発表されたWHO分類の診断基準の大項目に採用され，V617Fの検出はcMPNの診断に必須である．V617Fアレルバーデン定量法にはいくつかの方法があるが，ABC-PCR法は簡便性とコストにおいて他を凌駕する新規手法である．cMPNの遺伝子発現プロファイルではV617F依存性だけでなく非依存性の遺伝子発現もみられ，cMPNの発症にはV617F以外の関与も考えられる．

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