Fully automated and super-rapid system for the detection of JAK2V617F mutation

详细信息    查看全文

• 作者：Ruriko Tanaka ; Junya Kuroda ; William Stevenson ; Eishi Ashihara ; Takayuki Ishikawa ; Tomohiko Taki ; Yutaka Kobayashi ; Yuri Kamitsuji ; Eri Kawata ; Miki Takeuchi ; Yoshihide Murotani ; Asumi Yokota ; Mitsuha
• 关键词：JAK2 ; V617F ; Chronic myeloproliferative diseases ; Guanine quenching probe ; Direct sequencing
• 刊名：Leukemia Research
• 出版年：2008
• 出版时间：September 2008
• 年：2008
• 卷：32
• 期：9
• 页码：1462-1467
• 全文大小：663 K

文摘

JAK2V617F is a common mutation in chronic myeloproliferative diseases (CMPDs). We have developed a system utilizing JAK2V617F-specific guanine quenching probe (QP-system) to detect JAK2V617F. With QP-system, results can be obtained from 100 μl of blood within 90 min. We compared QP-system with direct sequencing using 42 CMPD patients’ specimens. JAK2V617F was detected in 25 specimens by QP-system, while direct sequencing failed to detect JAK2V617F in 7 of those 25. The presence of JAK2V617F mutation in these 7 specimens was confirmed by allele-specific PCR. These findings indicate that QP-system is more sensitive and useful than direct sequencing for diagnoses of CMPDs.