Biomedical subjects
Publications and source records attributed to H Z Shao.
Southern blotting, PCR, DGGE and DNA sequencing were used to study gene mutations in 52 unrelated Chinese Hemophilia A patients. 18 out of 34 severe cases had intron 22 inversions, 13 had small gene lesions, of which five are novel.
Hemophilia A is an X-linked bleeding disorder caused by deleterious mutations in the factor VIII gene. An inversion caused by introchromosomal homologous recombination between the A gene located in intron 22 of the factor VIII gene and one of the two telomeric A genes has been recently described as the common cause of about 50% of cases of severe hemophilia A. The rearrangement can be readily detected by a Southern blotting procedure. We report use of this procedure to detect rearrangements in 106 unrelated Chinese hemophilia A cases. In 49.3% of the patients with severe disease an inversion was found, but no inversion was detected in any of the patients with moderate or mild disease. The majority of inversions (91.4%) involved the most distal A gene; in a minority (8.6%) the more proximal A gene was involved. These results indicate that intron 22 inversion is the most important molecular defect causing Chinese hemophilia A and that analysis for intron 22 inversion may be the first-line test in the molecular diagnosis of severe hemophilia A.
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In this paper, the synthesis and analgesic activities of some derivatives of 4-methoxycarbonyl fentanyl are reported, in which the 4-N-phenyl group or both the 4-N-phenyl group and the 1-beta-phenyl group were replaced by some nonaromatic groups. In the last case, some compounds showed very strong analgesic activity. For example, the analgesic activities of compounds 4 and 6 were shown to be 695 and 818 times more potent than that of morphine respectively. The structure-analgesic activity relationships were discussed.
Thirteen hypercoagulation parameters related to coagulation, anticoagulation, platelet functions, dynamics of clot formation and hemorrheology were determined in 15-109 patients with thromboangiitis obliterans (TAO). The results showed that VIIIR = Ag, PAdT, PagT, HPF, and whole blood and plasma viscosity were elevated, fibrinogen elevated in the active stage, AT-III declined, RBC electrophoresis time prolonged, and changes suggesting hypercoagulation in thromboelastogram. All these indicated the existence of a hypercoagulation state in TAO patients, which could contribute to the process of thrombosis. The relationship between immune reactions and blood hypercoagulability could be crucial in the pathogenesis of TAO. Immune reactions causing injury of vascular endothelium play a primary and fundamental role, and blood hypercoagulability could play a secondary but important role in the course of the disease.
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Explore the source record for details and available documents.
Explore the source record for details and available documents.