DNA diagnostics for a predisposition to pregnancy loss
The polymorphism manifests itself as a single nucleotide substitution of thymine (T) for cytosine (C) in the untranslated region of the GP1BA gene, resulting in an amino acid substitution of Val28Ala. This variant leads to a regulatory sequence fault, which affects the efficiency of translation. The C allele, increasing the expression of GP1B on the platelet surface, increases the risk of thrombosis in the arterial bed, which may increase a miscarriage risk. In the European population, the frequency of the T allele is 5%. In general, the distribution of the C/C, C/T and T/T genotypes is 89%, 10% and 1% respectively.