Identification of a de novo mutation in a factor FVIII:C gene in a family requesting prenatal diagnosis of hemophilia A

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 ide...

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Bibliographic Details
Published inBratislavské lékarské listy Vol. 93; no. 9; p. 459
Main Authors Gécz, J, Saksová, L, Kádasi, L, Véghová, E
Format Journal Article
LanguageSlovak
Published Slovakia 01.09.1992
Subjects
Factor VIII - genetics
Female
Hemophilia A - diagnosis
Hemophilia A - genetics
Humans
Mutation
Pedigree
Polymorphism, Restriction Fragment Length
Pregnancy
Prenatal Diagnosis
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Summary: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.).
ISSN:0006-9248