MOLECULAR-DETECTION OR CARRIERS OF HEMOPHILIA-A IN MEXICAN FAMILIES

Citation
A. Rojasmartinez et al., MOLECULAR-DETECTION OR CARRIERS OF HEMOPHILIA-A IN MEXICAN FAMILIES, Revista de Investigacion Clinica, 48(2), 1996, pp. 125-127
Citations number
12
Categorie Soggetti
Medicine, General & Internal
ISSN journal
00348376
Volume
48
Issue
2
Year of publication
1996
Pages
125 - 127
Database
ISI
SICI code
0034-8376(1996)48:2<125:MOCOHI>2.0.ZU;2-S
Abstract
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.