Gécz J, Saksová L, Kádasi L, Véghová E
Oddelenie genetiky UMFG SAV, Bratislave.
Bratisl Lek Listy. 1992 Sep;93(9):459-62.
Hemophilia is caused by wide spectrum of different mutations in the F8C gene which made the direct DNA diagnosis of the diseases not the case of choice. Indirect DNA diagnosis by means of linked restriction fragment length polymorphisms (RFLPs) provides the alternative. Using this method authors identified de novo mutation in a family requiring prenatal diagnosis of hemophilia A. This de novo mutation arose during the spermatogenesis of the proband's father. Attempts to characterize the mutation on the molecular level are presented. (Ref. 15, Fig. 1.).
血友病是由F8C基因中广泛的不同突变引起的，这使得对该疾病进行直接DNA诊断并非首选方法。通过连锁限制性片段长度多态性（RFLP）进行间接DNA诊断提供了另一种选择。作者使用这种方法在一个需要进行甲型血友病产前诊断的家庭中鉴定出了新发突变。这种新发突变发生在先证者父亲的精子发生过程中。本文展示了在分子水平上对该突变进行表征的尝试。（参考文献15，图1）
