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

ABSTRACT

<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>