[巴西人群中甲型血友病基因携带者的检测]

[Detection of hemophilia A gene carriers in a Brazilian population].

作者信息

Arruda V R, Annichino-Bizzacchi J M, Costa F F

机构信息

Departamento de Clínica Médica, Faculdade de Ciências Médicas, Universidade Estadual de Campinas-UNICAMP, SP.

出版信息

Rev Assoc Med Bras (1992). 1993 Jul-Sep;39(3):126-30.

PMID:7904214

Abstract

The identification of carriers for the hemophilia A gene was carried out in 20 families of hemophilia A patients. The detection of the carriers was performed on the basis of the study of restriction length fragment polymorphism (RLFPs) for the enzymes BclI and HindIII. The procedures for the determination of RLFPs included the amplification of fragment of the factor VIII gene by the polymerase chain reaction (PCR) followed by digestion with the appropriate enzyme. We studied 84 relatives of the patients with hemophilia A and was possible to detect carriers in 76% of the families. The results presented here indicate that is possible to identify carriers for hemophilia A in most of the families of patients from the Brazilian population employing a limited number of RFLPs.

摘要

对20个甲型血友病患者家庭进行了甲型血友病基因携带者的鉴定。基于对BclI和HindIII酶的限制性片段长度多态性（RLFPs）的研究来检测携带者。确定RLFPs的程序包括通过聚合酶链反应（PCR）扩增因子VIII基因片段，然后用适当的酶进行消化。我们研究了84名甲型血友病患者的亲属，在76%的家庭中检测到了携带者。此处呈现的结果表明，利用有限数量的RFLPs，有可能在巴西人群中大多数患者家庭中鉴定出甲型血友病携带者。