Detection of rare beta-thalassemia mutations by denaturing gradient gel electrophoresis among Indians

作者：Gorakshakar AC; Phanasgaonkar SP; Nadkarni AH; Colah RB^*; Mohanty D

来源：Hemoglobin, 2004, 28(1): 15-24.

DOI：10.1081/HEM-120028883

• beta-Thalassemia (thal)
• rare mutations
• denaturing gradient gel electrophoresis (DGGE)
• India

We report four rare beta-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 deltabeta-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 beta-thal mutations in the diverse Indian population with its many ethnic groups, covering a vast geographic territory.

• 出版日期2004