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Detection of hemophilia a carriers by DNA analysis. Comparison with coagulation tests

Mauro S. Figueiredo; Rendrik F. Franco; Marco A. Zago

Departamento de Clínica Médica, Faculdade de Medicina de Ribeirão Preto, USP, 14048-900 Ribeirão Preto, SP, Brasil

ABSTRACT

We employed DNA analysis for the detection of hemophilia A carriers in 23 possible carriers from eight unrelated Brazilian families. Two factor VIII (FVIII) gene defects were identified and used for family studies: a large deletion involving the exons 16-26, and a TaqI site mutation in the exon 24. For all remaining families, carrier detection was successfully performed by the analysis of six polymorphic sites associated with the FVIII gene: BcII, HindIII, XbaI, BgII, MspI, and the extragenic Tagl/St14 system. Results obtained by coagulation assays combined with pedigree analysis showed an inaccuracy of 38% when compared to DNA studies. In addition, allele frequencies for each of the six polymorphic sites and the derived haplotypes were determined in a sample of 32 unrelated Brazilian subjects. The allele frequencies of the intragenic sites were similar to those observed for other Caucasian populations thus far studied.

Keywords: Hemophilia; DNA analysis; Coagulation tests.

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