Prenatal Diagnosis of β-Thalassemia Among Indians using Denaturing Gradient Gel Electrophoresis

Abstract

We have offered first trimester prenatal diagnosis to 55 couples at risk for β-thalassemia, originating from various parts of India, using polymerase chain reaction and denaturing gradient gel electrophoresis. Apart from the six common mutations, codon 30 (CAG→CAA), Cap site +1 (A→C), as well as three uncharacterized mutations were seen among the parents. in the majority of cases, the diagnosis was possible by scanning only one fragment (B) where most of the Indian mutations are situated. in 18 out of 55 cases, framework analysis could also have been used to offer prenatal diagnosis without characterizing the β-thalassemia mutations. in the two cases where the mutations were uncharacterized, prenatal diagnosis was done only on the basis of the anomalous denaturing gradient gel electrophoresis patterns seen in the parents and in previously affected children. This is the first attempt of prenatal analysis using denaturing gradient gel electrophoresis in the extremely diverse Indian population where the profile of mutations has not yet been fully elucidated.