Avtor/Urednik		Strmecki, Lana
Naslov		Iskanje in opredelitev mutacij gena za koagulacijski faktor VIII pri hemofiliji A
Prevedeni naslov		Detection and characterization of coagulation factor VIII gene mutations in haemophilia A
Tip		monografija
Kraj izdaje		Ljubljana
Založnik		Medicinska fakulteta
Leto izdaje		1998
Obseg		str. 110
Jezik		slo
Abstrakt		Haemophilia 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 5-10.000 males. The FVIII-gene is located at the tip of the long arm of the chromosome X at position Xq28. Up to now, a large number of different mutations in the factor VIII gene have been identified as a cause of haemophilia A. Mutations of the coagulation factor VIII gene were screened and characterized in 56 patients from 51 Slovenian haemophilia A families. With the use of selected molecular genetic methods we were able to track the disease in 85a/o (28/33) of families with familial haemophilia A and in 56% (10/18) of families with sporadic haemophilia A. The disease causing mutation was detected in 66% (37/56) of patients analysed. Using polymerase chain reaction (PCR), single-stranded conformational polymorphism (SSCP), restriction with Taq I and direct DNA sequencing, exons 1, 7, 8, 9,12,13,14,18, 22, 23, 24, and 26 of the factor VIII gene were screened for point mutations, in 37 Slovenian haemophilia A patients from 32 unrelated families. 24 patients are familial cases of haemophilia and 19 are sporadic patients. Mutations were found in 51 % (19/37) of patients; five in exon 26, two in exon 24, two in exon 23, one in intron 23, one in exon 18, two in exon 12, one in exon 8, three in exon 7 and one in exon 1. Mutations were found in 23% (3/19) of sporadic patients and in 66% (16/24) of familial cases. Of the mutations detected three are novel; S S19 R in exon 1, Q6O2STOP in exon 12 and 6574+1 G-A in intron 23, while sixteen have been reported before and are novel only for our population. 39 Slovenian patients with severe haemophilia A were screened for the presence of the factor VIII gene inversion. (Abstract truncated at 2000 characters)
Deskriptorji		HEMOPHILIA FACTOR VIII MUTATION POLYMERASE CHAIN REACTION POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL BASE SEQUENCE DNA PROBES BLOTTING, SOUTHERN GENES, MHC CLASS II