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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].
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BMC Hematology

ISSN: 2052-1839

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