A. Rojasmartinez et al., MOLECULAR-DETECTION OR CARRIERS OF HEMOPHILIA-A IN MEXICAN FAMILIES, Revista de Investigacion Clinica, 48(2), 1996, pp. 125-127
The genomic DNAs of carrier mothers from 20 hemophilia A unrelated Mex
ican families were analysed by polymerase chain reaction (PCR) amplifi
cation 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+ homozy
gote. In 18 daughters of the informative families we were able to esta
blish 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.