Detection of Rare β‐Thalassemia Mutations by Denaturing Gradient Gel Electrophoresis Among Indians

Abstract

We report four rare β‐thalassemia (thal) mutations, viz. AATAAA→AACAAA [polyadenylation (poly A) site mutation], IVS‐II‐745 (C→G), codon 121 (G→T) and IVS‐II‐1 (G→A), detected by denaturing gradient gel electrophoresis (DGGE) among Indians. Of these, the poly A site mutation has been found in combination with deletional δβ‐thal in one case, and with the IVS‐1‐5 (G→C) mutation in another. Two DGGE patterns, corresponding to the same IVS‐II‐1 (G→A) mutation, were seen in one family. Framework (FW) analyses in family studies have shown that the poly A site mutation is associated with FW‐1, while both the codon 121 (G→T) and IVS‐II‐1 (G→A) mutations are associated with FW‐2. Denaturing gradient gel electrophoresis facilitates the screening of rare β‐thal mutations in the diverse Indian population with its many ethnic groups, covering a vast geographic territory.

• β‐Thalassemia (thal)
• Rare mutations
• Denaturing gradient gel electrophoresis (DGGE)
• India