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Table 1 The panel of factor VIII gene linked polymorphisms, used as markers for carriership determination and prenatal diagnostics of haemophilia A in Bulgaria and their local heterozygocity rates.

From: Genetic analysis of haemophilia A in Bulgaria

Marker ST14 VNTR IVS22 STR IVS13 STR BclI RFLP HindIII RFLP XbaI RFLP IVS25 STR Int7 G/A IVS6 STR
H* 0.78 0.63 0.46 0.35 0.35 n.a.** 0.25 0.19 0.02
  1. *H: heterozygocity rate. (H = 1 - 931;pi 2); pi – frequency of allele i. **The sequence containing the Xba I polymorphic site is located in the 9,5 kb repeated region of intron 22. Thus, flanking primers amplify together with the Xba I polymorphic site a fragment in the extragenic copies that usually lack the Xba I restriction site and, practically, genotypes +/+ cannot be distinguished of genotype +/-. Thus, genotype of a female must be inferred of the genotype of her children [19].