The frequency of different polymorphic variants of the multiallelic locus DXS52 (St14) of the human X-chromosome, adjacent to the factor VIII gene, was evaluated by means of PCR for the heterogeneous population of Moscow and Moscow oblast'. It was shown that the heterozygosity index of this polymorphism in the studied population is much lower (0.71) than in Western Europe (0.80-0.85), which can apparently be explained by a higher frequency of the prevailing allele 1690 (0.52 compared to 0.36). Five new St14 alleles were detected during this study. The total informativity of the polymorphic markers St14 and HindIII (intron 19 of the factor VIII gene), which are most commonly used for hemophilia A detection, was evaluated. Among 83 investigated women, only 57 (69%) were heterozygous for at least one of the markers used, which is also much lower than in Western-European populations (90-95%).
Download full-text PDF |
Source |
---|
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!