• Rev Invest Clin · Mar 1996

    Molecular detection or carriers of hemophilia A in Mexican families.

    • A Rojas-Martínez, M C Villalobos-Torres, R I Ortiz-de-Luna, M T Pompa-Garza, and H A Barrera-Saldaña.
    • Departamento de Bioquímica, Facultad de Medicina de la Universidad Autónoma de Nuevo León, Monterrey, N.L., México.
    • Rev Invest Clin. 1996 Mar 1; 48 (2): 125-7.

    AbstractThe genomic DNAs of carrier mothers from 20 hemophilia A unrelated Mexican families were analysed by polymerase chain reaction (PCR) amplification of the Bcl I polymorphic region at intron 18 of the factor VIII gene. Eleven women (55%) were found to be informative (Bcl I+/Bcl I-), eight (40%) were Bcl I- homozygotes and one (5%) was a Bcl I+ homozygote. In 18 daughters of the informative families we were able to establish carrier status for eight. The frequency of the Bcl I alleles in the 20 mothers was 0.675 for Bcl I- and 0.325 for Bcl I+ which give a frequency of 44% of heterozygous females in our sample.

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