Medknow Publications on behalf of Indian Society of Human Genetics
Abstract
BACKGROUND: β -Thalassemia (β-thal) is present in
practically every caste group in Indians. Molecular characterization of
β-thal in these groups has revealed an extremely heterogeneous
picture. AIM: To identify all the mutations and to detect the novel
mutations using a versatile mutation detection technique. MATERIALS
AND METHODS: Denaturing gradient gel electrophoresis (DGGE) has been
established to scan the entire β-globin gene to localize the
mutation followed by DNA sequencing for characterization. The DNA
samples from two families referred to us either for prenatal diagnosis
or for DNA studies were studied. RESULTS: Atypical DGGE patterns in
fragments B & A indicating the presence of the mutation, have been
detected in both the families. DNA sequencing revealed two rare
patterns fragments with patterns in fragments β-thal mutations [CD
26 (C→T) and -90 (C →T)]. CONCLUSION: DGGE is a useful
mutation detection technique to identify β-thal mutations among
the heterogeneous Indian population