Avtor/Urednik		Strmecki, L
Naslov		Molekularno genetska analiza in diagnostika hemofilije A v slovenski populaciji
Prevedeni naslov		Molecular genetic analysis and diagnosis of hemophilia A in Slovenian population
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Medicinska fakulteta
Leto izdaje		1995
Obseg		str. 63
Jezik		slo
Abstrakt		Hemophilia A is a recessive chromosome X-linked bleeding disorder. The disease is due to a defect in coagulation factor VIII, a protein serving as a cofactor in the coagulation cascade. The disease is uniformly represented in all ethnic groups, affecting 1 in 5000 males (38). The factor VIII gene is localised at the tip of the long arm of the X chromosome at the position Xq 28 (14). A large number of different mutations in the factor VII gene have been identified as a cause of hemophilia A (47). As the defect causing the disease is generally unknown, the genetic prediction of hemophilia A depends upon the analysis of DNA polymorphisms. Using the Polymerase Chain Reaction we tried to determine the informativity for four different intragenic polymorphisms in 27 Slovenian hemophilia A families. We used Bcl I restriction enzyme as a polymorphic marker for the determination of the intron 18 polymorphism, and established that this intragenic marker is highly informative in the Slovenian population, as 55.6 percent of families were informative for the marker. 9.3 percent of families were informative for the intron 7 polymorphism. We were not able to obtain reliable results concerning polymorphisms within introns 13 and 22. The results obtained enabled us to identify the carriers of the disease in the informative families. Also three prenatal diagnosis of the disease have been carried out using polymorphic marker Bcl I. Using single stranded DNA conformational polymorphism analysis we searched for mutations within the exons 8 and 14 of the factor VIII gene. The exons carry factor VIII cleavage sites important for the activation and deactivation of the protein. We also searched for mutations in exons 23, 24 and 26 which contain CpG sequences - hot spots of mutations. We carried out Taq I restriction analysis of the exons 23, 24 and 26. Taq I recognition sequence includes the CpG dinucleotide.(trunc.)
Deskriptorji		HEMOPHILIA DNA, RECOMBINANT POLYMERASE CHAIN REACTION POLYMORPHISM (GENETICS) FACTOR VIII EXONS DNA MUTATIONAL ANALYSIS POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL