USING OF TAQ POLYMERASE FOR IDENTIFICATIO N OF BETA-THALASSEMIA MUTATIONS IN HETEROZYGOUS CARRIER FROM AZERBAIJAN AT PRENATAL-DIAGNOSIS

Prenatal DNA-diagnosis of beta-thalassemia in a family from Azerbaijan revealed two mutations new for this region - G.A transition at codon 15 and G-C transversion at position 5 of the intron 1. Prenatal diagno sis was carried out by direct sequencing of in vitro amplified (PCR) b eta-globin gene fragments with a modified Sanger technique using therm ostabile DNA polymerase. The absence of parents mutations in the fetal DNA allowed us to conclude that the fetus is normal. The diagnosis wa s proved at hematological testing of the baby borne.