目的:将检测乙型肝炎病毒(hepatitis B virus,HBV)耐药突变位点的焦磷酸测序检测试剂与Sanger双脱氧链终止法(Sanger测序法,简称Sanger法)检测试剂进行临床比对,为临床诊断和个体化治疗提供参考。方法:分别用研制的焦磷酸测序检测试剂与...目的:将检测乙型肝炎病毒(hepatitis B virus,HBV)耐药突变位点的焦磷酸测序检测试剂与Sanger双脱氧链终止法(Sanger测序法,简称Sanger法)检测试剂进行临床比对,为临床诊断和个体化治疗提供参考。方法:分别用研制的焦磷酸测序检测试剂与Sanger法检测试剂检测415份临床慢性乙型肝炎(乙肝)患者的血清样本及30例对照血清样本,并与Sanger法检测试剂比对,计算焦磷酸测序检测试剂的特异度、灵敏度及总符合率,计算Kappa值,比较2种试剂检测结果的一致性。结果:与经典的Sanger法检测试剂比对,焦磷酸测序检测试剂的特异度为100%,灵敏度为99.82%,一致率为99.86%,受试者工作特征曲线下面积为0.999 4,两者间具有较强的一致性。结论:焦磷酸测序检测试剂适合于临床对HBV样本进行耐药性诊断,其特异度、灵敏度与Sanger测序法一致性较强,且具有检测速度快、操作方便、测序成本低等优点,能更快地对临床乙肝患者提供用药指导建议,具有良好的临床应用前景。展开更多
A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We use...A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology Group(GOG)protocols 172,182,and144,the University of Hawaii Cancer Research Center,and Creighton University.Control women were recruited fromPittsburgh and Hawaii.Denatur ing high -performance liquid chromatography,sequence an alysis,and single nu-cleotide polymorphism genotyping b y Pyrosequencingwere employed to analyze the CHEK2gene.Mutation screening of the CHEK2gene in 48cases who had a f irst -degree relative with OvCa uncovered only del1100C and A252G variants.Altogether,the del1100C variantwas detected in none of 751unselected cases,in 1of 52(1.9%)cases who had a firstdegree relative with OvCa,and in 3of 521(0.6%)unselected controls.The frequencies of del1100C and A252G variants did not show stati stically significant differences between the cases and th e controls.These re-sults suggest that variations in CHEK2do not make a sig-nificant contribution to the pathogenesis of OvCa in the U.S.population.展开更多
文摘目的:将检测乙型肝炎病毒(hepatitis B virus,HBV)耐药突变位点的焦磷酸测序检测试剂与Sanger双脱氧链终止法(Sanger测序法,简称Sanger法)检测试剂进行临床比对,为临床诊断和个体化治疗提供参考。方法:分别用研制的焦磷酸测序检测试剂与Sanger法检测试剂检测415份临床慢性乙型肝炎(乙肝)患者的血清样本及30例对照血清样本,并与Sanger法检测试剂比对,计算焦磷酸测序检测试剂的特异度、灵敏度及总符合率,计算Kappa值,比较2种试剂检测结果的一致性。结果:与经典的Sanger法检测试剂比对,焦磷酸测序检测试剂的特异度为100%,灵敏度为99.82%,一致率为99.86%,受试者工作特征曲线下面积为0.999 4,两者间具有较强的一致性。结论:焦磷酸测序检测试剂适合于临床对HBV样本进行耐药性诊断,其特异度、灵敏度与Sanger测序法一致性较强,且具有检测速度快、操作方便、测序成本低等优点,能更快地对临床乙肝患者提供用药指导建议,具有良好的临床应用前景。
文摘A deletion variant in the CHEK2gene(del1100C)has been implicated as a low -penetrance risk factor for breastcancer.We sought to determine contr ibution of CHEK2mutations to the etiology of ovarian cancer(OvCa ).We used cases ascertained from the United States through Gy-necologic Oncology Group(GOG)protocols 172,182,and144,the University of Hawaii Cancer Research Center,and Creighton University.Control women were recruited fromPittsburgh and Hawaii.Denatur ing high -performance liquid chromatography,sequence an alysis,and single nu-cleotide polymorphism genotyping b y Pyrosequencingwere employed to analyze the CHEK2gene.Mutation screening of the CHEK2gene in 48cases who had a f irst -degree relative with OvCa uncovered only del1100C and A252G variants.Altogether,the del1100C variantwas detected in none of 751unselected cases,in 1of 52(1.9%)cases who had a firstdegree relative with OvCa,and in 3of 521(0.6%)unselected controls.The frequencies of del1100C and A252G variants did not show stati stically significant differences between the cases and th e controls.These re-sults suggest that variations in CHEK2do not make a sig-nificant contribution to the pathogenesis of OvCa in the U.S.population.
