中华医学遗传学杂志
中華醫學遺傳學雜誌
중화의학유전학잡지
CHINESE JOURNAL OF MEDICAL GENETICS
2013年
6期
721-723
,共3页
安立%刘金玲%张心声%程彦%房云海
安立%劉金玲%張心聲%程彥%房雲海
안립%류금령%장심성%정언%방운해
凝血因子Ⅷ活性%血管性血友病因子抗原%血友病A%携带者
凝血因子Ⅷ活性%血管性血友病因子抗原%血友病A%攜帶者
응혈인자Ⅷ활성%혈관성혈우병인자항원%혈우병A%휴대자
Coagulation factor Ⅷ activity%von Willebrand factor antigen%Hemophilia A%Carrier
目的 探讨能够区分中国血友病A肯定携带者与正常女性的凝血因子Ⅷ活性(coagulation factorⅧactivity,FⅧ∶C)与血管性血友病因子抗原(von Willebrand factor antigen,vWFAg)比值的临界值,并与基因诊断方法对照验证其对血友病A(hemophilia A,HA)家系中可疑携带者进行诊断的可行性.方法 应用国际通用的一期法检测HA肯定携带者和正常女性的FⅧ∶C,ELISA法检测vWFAg,分别计算FⅧ∶C/vWFAg比值并进行统计学分析,得出能够区分HA携带者和正常女性的临界值,然后在HA家系的可疑携带者中进行诊断;并应用长距离PCR、遗传连锁分析以及直接基因测序等方法对患者及家系成员进行DNA分析.结果 90.6%的肯定携带者FⅧ∶C/vWFAg比值小于0.82,如果以0.82作为临界值,可以使大多数可疑携带者得到初步诊断,经基因诊断方法验证均相符.结论 应用FⅧ∶C/vWFAg比值的临界值对HA家系中可疑携带者进行诊断的方法非常简便且较为可靠.
目的 探討能夠區分中國血友病A肯定攜帶者與正常女性的凝血因子Ⅷ活性(coagulation factorⅧactivity,FⅧ∶C)與血管性血友病因子抗原(von Willebrand factor antigen,vWFAg)比值的臨界值,併與基因診斷方法對照驗證其對血友病A(hemophilia A,HA)傢繫中可疑攜帶者進行診斷的可行性.方法 應用國際通用的一期法檢測HA肯定攜帶者和正常女性的FⅧ∶C,ELISA法檢測vWFAg,分彆計算FⅧ∶C/vWFAg比值併進行統計學分析,得齣能夠區分HA攜帶者和正常女性的臨界值,然後在HA傢繫的可疑攜帶者中進行診斷;併應用長距離PCR、遺傳連鎖分析以及直接基因測序等方法對患者及傢繫成員進行DNA分析.結果 90.6%的肯定攜帶者FⅧ∶C/vWFAg比值小于0.82,如果以0.82作為臨界值,可以使大多數可疑攜帶者得到初步診斷,經基因診斷方法驗證均相符.結論 應用FⅧ∶C/vWFAg比值的臨界值對HA傢繫中可疑攜帶者進行診斷的方法非常簡便且較為可靠.
목적 탐토능구구분중국혈우병A긍정휴대자여정상녀성적응혈인자Ⅷ활성(coagulation factorⅧactivity,FⅧ∶C)여혈관성혈우병인자항원(von Willebrand factor antigen,vWFAg)비치적림계치,병여기인진단방법대조험증기대혈우병A(hemophilia A,HA)가계중가의휴대자진행진단적가행성.방법 응용국제통용적일기법검측HA긍정휴대자화정상녀성적FⅧ∶C,ELISA법검측vWFAg,분별계산FⅧ∶C/vWFAg비치병진행통계학분석,득출능구구분HA휴대자화정상녀성적림계치,연후재HA가계적가의휴대자중진행진단;병응용장거리PCR、유전련쇄분석이급직접기인측서등방법대환자급가계성원진행DNA분석.결과 90.6%적긍정휴대자FⅧ∶C/vWFAg비치소우0.82,여과이0.82작위림계치,가이사대다수가의휴대자득도초보진단,경기인진단방법험증균상부.결론 응용FⅧ∶C/vWFAg비치적림계치대HA가계중가의휴대자진행진단적방법비상간편차교위가고.
Objective To determine the cut-off value for coagulation factor Ⅷ activity (FⅧ ∶ C) to von Willebrand factor antigen (vWFAg) ratio which can classify obligatory carriers of hemophilia A and normal females,and assess its feasibility to diagnose suspected carriers in affected families through comparison with the method of gene diagnosis.Methods FⅧ ∶ C assay was carried out by a one-stage method in both obligatory carriers and normal females.vWF antigen was measured with ELISA assay.The FⅧ ∶ C/vWF ratio was calculated.Statistic analysis was carried out to determine the cut-off value which can classify the two groups.The ratio was then used to diagnose suspected carriers from families affected with hemophilia A.The results were compared with that by long distance polymerase chain reaction,genetic linkage analysis and/or direct sequencing.Results The FⅧ ∶ C/vWFAg value for 90.6% of obligatory carriers was under 0.82.Should 0.82 be selected as the cut-off value to diagnose the 42 suspected carriers,most of them can be readily diagnosed.The results were all in agreement with that of genetic analysis.Conclusion Cut-off value of FⅧ ∶ C/vWFAg may be used for initial diagnose of the suspected carriers from families affected with hemophilia A.The method is quite convenient and reliable.