中国人群少见血红蛋白H病的分子遗传学特征分析

目的 分析由少见基因类型导致的血红蛋白H病家系的分子遗传学特征.方法 采用标准的血液学分析技术检测先证者及家系成员红细胞参数,包括RBC、Hb、MCV、MCH、MCHC和RDW,进行表型诊断.利用SPIFE快速自动电泳分析系统检测其血红蛋白组分Hb A、HbA2、Hb F、Hb H和Hb Bart＆#39;s.采用反向斑点杂交技术诊断α-地中海贫血基因非缺失突变,利用gap-PCR扩增特异位点序列并对扩增序列进行克隆测序,明确突变位点.结果 先证者母亲MCV、MCH均降低,Hb A2为2.39％且亨氏小体阳性,基因检测结果为α泰国型缺失杂合子.先证者父亲各红细胞参数正常,但RDB检测结果为携带αCS点突变.先证者及其弟表现为中重度小细胞低色素贫血,蛋白电泳结果显示他们均有Hb H和Hb Bart＆#39;s带,先证者Hb H为1o.8％,Hb Bart＆#39;s为7.51％,其弟Hb H为14.78％,Hb Bar（s为9.11％,基因检测结果证实该姐弟均为HbH病患者,遗传了母亲的α泰国型缺失片段和父亲的αCS点突变,故α地中海贫血型别为THAI/ααcs.结论 首次报道中国人群少见的H病类型THAI/α αcs地贫基因类型是中国人群少见的H病类型,丰富了中国人群α珠蛋白基因突变谱.     

杂交捕获法和PCR-RDB法检测妇女HPV感染的比较

Objective To compare hybrid capture-Ⅱ(HC2)to polymerase chain reaction(PCR)-reverse dot-blot(RDB)for detecting HPV infection in women.Methods HC2 method and PCR-RDB were applied to detecting human papillomaviral infection in female genital duct,and the test results were analyzed.Results Concordant results were found in 81.14%(400/493)samples(Kappa=0.63;95%CI,0.57-0.69).The high risk type HPV positive rate detected by PCR-RDB were 1.60%(3/187),29.85%(20/67),69.88%(58/83),86.52%(77/89)and 91.04%(61/67),respectively,when the HC2 RLU/CO of samples were＜1.00,1.00-9.99,10.00-99.99,100.00-999.99 and≥1000.00.Statistical differences were found among the five groups(χ2=289.3,P＜0.01).Cross reactions were found between HC2 high risk probe and HPV53,66,11,cp8304 and other genotypes.Conclusion There is good concordance between HC2 and PCR-RDB,though cross reaction exists in HC2.Relatively speaking,there are more influential factors for PCR-RDB.     

杂交捕获法和PCR-RDB法检测妇女HPV感染的比较

Objective To compare hybrid capture-Ⅱ(HC2)to polymerase chain reaction(PCR)-reverse dot-blot(RDB)for detecting HPV infection in women.Methods HC2 method and PCR-RDB were applied to detecting human papillomaviral infection in female genital duct,and the test results were analyzed.Results Concordant results were found in 81.14%(400/493)samples(Kappa=0.63;95%CI,0.57-0.69).The high risk type HPV positive rate detected by PCR-RDB were 1.60%(3/187),29.85%(20/67),69.88%(58/83),86.52%(77/89)and 91.04%(61/67),respectively,when the HC2 RLU/CO of samples were＜1.00,1.00-9.99,10.00-99.99,100.00-999.99 and≥1000.00.Statistical differences were found among the five groups(χ2=289.3,P＜0.01).Cross reactions were found between HC2 high risk probe and HPV53,66,11,cp8304 and other genotypes.Conclusion There is good concordance between HC2 and PCR-RDB,though cross reaction exists in HC2.Relatively speaking,there are more influential factors for PCR-RDB.     

第二代杂交捕获法诊断宫颈高度病变的临床评价

目的评价第2代杂交捕获法(HC2)检测13种高危型人乳头瘤病毒(HPV)用于诊断宫颈高度病变的效能。方法利用HC2检测292位妇女宫颈上皮细胞13种高危型HPV感染状况,以组织病理学检测结果为金标准评价HC2诊断宫颈高度病变[≥宫颈上皮内瘤变2级(C IN2)]的效能。结果≥C IN2组妇女13种高危型HPV感染率为95.56%(43/45),相似文献   

5个中间型β-地中海贫血家系临床结果分析

目的了解现行PCR-RDB法对中间型β-地贫基因诊断的准确性。方法对5个中间型β-地贫家系进行血常规、血红蛋白电泳和β-地贫基因的PCR-RDB法检测,并用长链PCR法检测家系1和家系2中的先证者及母亲的β-地贫基因的缺失突变。结果 5例先证者HbF含量均增高,其中2例为轻度贫血,3例为中度贫血;4例先证者PCR-RDB法结果为杂合子与其表现的临床症状不符,1例先证者PCR-RDB结果为纯合子与父母基因检测结果不符;先证者1及其母亲长链PCR法显示阴性,先证者2及其母亲长链PCR法均为东南亚(SEA)缺失型HPFH。结论若在产前诊断时仅用PCR-RDB法检测β-地贫基因,会造成缺失型β-地贫基因漏诊,引起一系列严重的社会问题。     

探讨脑梗死患者凝血象和血小板变化

目的:探讨脑梗死患者凝血象和血小板变化情况。方法:选取2008年3月～2013年3月我院收治的100例脑梗死患者(观察组)以及健康体检者100例(对照组),均检测凝血象与血小板,并对检测结果进行比较分析。结果:APTT、PT及TT几项凝血象指标方面,观察组检测水平均相对较低,FIB水平则相对较高;PLT血小板参数检测水平,观察组明显低于对照组,PDW与MPV则明显高于对照组;以上相关比较均有显著性差异(P<0.05)。结论:检测凝血象以及血小板相关指标,对诊断脑梗死有重要的临床参照价值,值得临床推广应用。     

杂交捕获法和PCR-RDB法检测妇女HPV感染的比较

Objective To compare hybrid capture-Ⅱ(HC2)to polymerase chain reaction(PCR)-reverse dot-blot(RDB)for detecting HPV infection in women.Methods HC2 method and PCR-RDB were applied to detecting human papillomaviral infection in female genital duct,and the test results were analyzed.Results Concordant results were found in 81.14%(400/493)samples(Kappa=0.63;95%CI,0.57-0.69).The high risk type HPV positive rate detected by PCR-RDB were 1.60%(3/187),29.85%(20/67),69.88%(58/83),86.52%(77/89)and 91.04%(61/67),respectively,when the HC2 RLU/CO of samples were＜1.00,1.00-9.99,10.00-99.99,100.00-999.99 and≥1000.00.Statistical differences were found among the five groups(χ2=289.3,P＜0.01).Cross reactions were found between HC2 high risk probe and HPV53,66,11,cp8304 and other genotypes.Conclusion There is good concordance between HC2 and PCR-RDB,though cross reaction exists in HC2.Relatively speaking,there are more influential factors for PCR-RDB.     

5个中间型β-地中海贫血家系临床结果分析

目的了解现行PCR-RDB法对中间型β-地贫基因诊断的准确性。方法对5个中间型β-地贫家系进行血常规、血红蛋白电泳和β-地贫基因的PCR-RDB法检测,并用长链PCR法检测家系1和家系2中的先证者及母亲的β-地贫基因的缺失突变。结果 5例先证者HbF含量均增高,其中2例为轻度贫血,3例为中度贫血;4例先证者PCR-RDB法结果为杂合子与其表现的临床症状不符,1例先证者PCR-RDB结果为纯合子与父母基因检测结果不符;先证者1及其母亲长链PCR法显示阴性,先证者2及其母亲长链PCR法均为东南亚（SEA）缺失型HPFH。结论若在产前诊断时仅用PCR-RDB法检测β-地贫基因,会造成缺失型β-地贫基因漏诊,引起一系列严重的社会问题。     

荧光探针结合区序列突变对HBV DNA检测的影响

目的探讨标本荧光探针结合区序列突变对荧光定量PCR检测HBV DNA的影响。方法采用3种国产荧光定量PCR试剂对200例标本进行平行检测HBV DNA,分析3种试剂检测结果的差异,并对6例3种试剂检测结果无差异的标本和6例达安试剂检测结果明显降低或漏检标本进行测序。结果 3种试剂检测结果相差30倍以上的标本47例,且3种试剂均有不同程度的漏检;6例3种试剂检测结果无差异的标本荧光探针结合区序列无突变,6例达安试剂检测结果明显降低或漏检的标本荧光探针结合区序列均有突变。结论标本荧光探针结合区序列突变是造成达安试剂检测HBV DNA结果明显降低或漏检的原因。     

杂交捕获法和PCR-RDB法检测妇女HPV感染的比较

Objective To compare hybrid capture-Ⅱ(HC2)to polymerase chain reaction(PCR)-reverse dot-blot(RDB)for detecting HPV infection in women.Methods HC2 method and PCR-RDB were applied to detecting human papillomaviral infection in female genital duct,and the test results were analyzed.Results Concordant results were found in 81.14%(400/493)samples(Kappa=0.63;95%CI,0.57-0.69).The high risk type HPV positive rate detected by PCR-RDB were 1.60%(3/187),29.85%(20/67),69.88%(58/83),86.52%(77/89)and 91.04%(61/67),respectively,when the HC2 RLU/CO of samples were＜1.00,1.00-9.99,10.00-99.99,100.00-999.99 and≥1000.00.Statistical differences were found among the five groups(χ2=289.3,P＜0.01).Cross reactions were found between HC2 high risk probe and HPV53,66,11,cp8304 and other genotypes.Conclusion There is good concordance between HC2 and PCR-RDB,though cross reaction exists in HC2.Relatively speaking,there are more influential factors for PCR-RDB.