Article
Analysis of Factor VIII polymorphic markers as a means for carrier detection in Brazilian families with haemophilia A.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Jul 2007
de Carvalho F M, de Vargas Wolfgramm E, Paneto G G, de Paula Careta F, Spagnol Perrone A M, de Paula F, Louro I D
Abstract excerpt
Haemophilia A is an X-linked, recessively inherited bleeding disorder of varying severity, which results from the deficiency of procoagulant factor VIII f(8). Linkage diagnosis using polymorphic markers in the f8 gene is widely used to detect carriers. The objective of this study was to verify the informativeness of three polymorphic markers in the Brazilian population, to evaluate the usefulness of such markers...
Topics
- Brazil
- Factor VIII
- Female
- Genetic Carrier Screening
- Genetic Linkage
- Genetic Markers
- Hemophilia A
- Humans
- Male
- Mutation
- Pedigree
- Polymorphism, Genetic
- Pregnancy
- Prenatal Diagnosis