Gene diagnosis of hemophilia B by multiple STR analysis / 中华血液学杂志

<p><b>OBJECTIVE</b>To establish a simple, rapid genetic diagnostic system for haemophilia B.</p><p><b>METHODS</b>The polymorphisms of eight STR loci in 87 normal persons and 8 haemophilia B families were assayed by PCR and genescan, and the linkage relations were analysed.</p><p><b>RESULTS</b>Six of the eight STR loci can provide genetic information for haemophilia B, and the heterozygosity is 0.50 approximately 0.83, PIC 0.39 approximately 0.80, and DP 0.66 approximately 0.94.</p><p><b>CONCLUSION</b>Combination of multiple STR loci analysis could be effective method for genetic diagnosis of haemophilia B.</p>

Study on plasma coagulation factor VII (FVII) levels and polymorphisms of FVII gene in patients with coronary heart disease / 中华血液学杂志

<p><b>OBJECTIVE</b>To investigate the plasma levels of coagulation factor VII (FVII) and polymorphisms of FVII gene in patients with coronary heart disease (CHD), and evaluate the effect of plasma FVII levels and FVII gene polymorphisms on CHD.</p><p><b>METHODS</b>Plasma FVIIa, FVII: Ag and FVIIc were measured and polymorphisms of FVII gene were analyzed in 149 control cases and 60 CHD cases, including 33 acute myocardial infarction (AMI) cases by a combination of polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) and agarose gel electrophoresis.</p><p><b>RESULTS</b>FVIIa, FVIIc in AMI group were significantly higher than that in control group, but FVII: Ag wasn't. There were no significant difference in plasma FVIIa, FVII: Ag and FVIIc between CHD and control group. The IVS7 genotypic frequency in AMI group was significantly different from that in control group. There was no significant difference in genotypic frequencies and allelic frequencies in other polymphism sites. FVII: Ag was significantly higher in -402A homozygote than that in -402G homozygote.</p><p><b>CONCLUSIONS</b>Increased FVII levels, especially FVIIa and FVIIc in plasma, may contribute to coronary artery thrombosis. There was significant difference in IVS7 genotype frequency between control and AMI groups, but the rest weren't significantly different. FVII: Ag was significantly higher in -402A homozygote than that in -402G homozygote. Polymorphism of -402 G/A may play an indirect role in AMI by regulating plasma FVII levels.</p>