Biopolym. Cell. 1990; 6(2):45-52.
RFLP-analysis and haemophilia A diagnostics with DNA probes
1Aseev M. V., 1Ivashchenko T. E., 1Gorbunova V. N., 1Baranov V. S.
  1. Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
    Leningrad, USSR


RFLP analysis of DNA sequences close to (probe St-14) or inside Factor VIII : C gene (probes p. 51.61 and probe p. 1.8) was carried out in the Leningrad population (control group), in the families with high risk of haemophilia A as well as in patients with haemophilia A. The frequency of corresponding alleles in normal and haemophilia A X chromosomes were in good concordance with relative allelic frequencies in populations of Western Europe and North America. Two rare and previously unkown alleles (4.2 and 4.35 base pairs) were detected in studies with St-14 probe. High informativity of closely linked St-14 probe and low predictive values of tested intragenetic probes have been confirmed. Using RFLP technique with 3 tested probes haemophilia A heterozygotcs carriers have been diagnosed in 11 and rejected in 2 close female relatives of haemophilia patients. Prenatal diagnosis of haemophilia A in a 9-week embryo has been perfotned.


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