中华血液学杂志
中華血液學雜誌
중화혈액학잡지
Chinese Journal of Hematology
2011年
1期
21-24
,共4页
姚冬明%钱军%林江%陈芹%肖高飞%王雅丽%钱震%纪润璧%李云%杨静
姚鼕明%錢軍%林江%陳芹%肖高飛%王雅麗%錢震%紀潤璧%李雲%楊靜
요동명%전군%림강%진근%초고비%왕아려%전진%기윤벽%리운%양정
高分辨率熔解分析%易位,遗传%白血病,非淋巴细胞,急性%基因,c-kit%DNA 突变分析
高分辨率鎔解分析%易位,遺傳%白血病,非淋巴細胞,急性%基因,c-kit%DNA 突變分析
고분변솔용해분석%역위,유전%백혈병,비림파세포,급성%기인,c-kit%DNA 돌변분석
High-resolution melting%Translocation,genetic%Leukemia,nonlymphocytic,acute%Gene,c-kit%DNA mutational analysis
目的 应用高分辨率熔解(HRM)曲线分析法检测急性髓系白血病(AML)患者c-kit基因常见突变N822K和D816V.方法 对21例t(8;21)阳性AML患者骨髓标本的c-kit基因第17号外显子进行PCR扩增、HRM突变检测及DNA测序验证.结果 HRM分析发现21例患者中6例(28.6%)的c-kit基因扩增产物出现异常熔解曲线,经测序验证1例为D816V杂合子突变,5例为N822K杂合子突变.结论 HRM分析是一种简便、快速、特异和高通量的c-kit基因突变筛查方法.
目的 應用高分辨率鎔解(HRM)麯線分析法檢測急性髓繫白血病(AML)患者c-kit基因常見突變N822K和D816V.方法 對21例t(8;21)暘性AML患者骨髓標本的c-kit基因第17號外顯子進行PCR擴增、HRM突變檢測及DNA測序驗證.結果 HRM分析髮現21例患者中6例(28.6%)的c-kit基因擴增產物齣現異常鎔解麯線,經測序驗證1例為D816V雜閤子突變,5例為N822K雜閤子突變.結論 HRM分析是一種簡便、快速、特異和高通量的c-kit基因突變篩查方法.
목적 응용고분변솔용해(HRM)곡선분석법검측급성수계백혈병(AML)환자c-kit기인상견돌변N822K화D816V.방법 대21례t(8;21)양성AML환자골수표본적c-kit기인제17호외현자진행PCR확증、HRM돌변검측급DNA측서험증.결과 HRM분석발현21례환자중6례(28.6%)적c-kit기인확증산물출현이상용해곡선,경측서험증1례위D816V잡합자돌변,5례위N822K잡합자돌변.결론 HRM분석시일충간편、쾌속、특이화고통량적c-kit기인돌변사사방법.
Objective To detect the common mutations (D816V and N822K) of c-kit gene in acute myeloid leukemia (AML) using high-resolution melting analysis (HRM). Methods HRM analysis was established to screen c-kit mutations in PCR products of c-kit exon 17 in 21 AML patients with t(8;21 ). PCR products were sequenced to confirm the mutation. Results HRM analysis identified an aberrant melting curve in 6 cases (28.6%), which were confirmed by direct DNA sequencing as one D816V mutation and five N822K mutation. Conclusion HRM analysis is a convenient, rapid, specific and high-throughput technique for scanning c-kit gene mutation in AML.
