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Clinical Chemistry 49: 777-781, 2003; 10.1373/49.5.777
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(Clinical Chemistry. 2003;49:777-781.)
© 2003 American Association for Clinical Chemistry, Inc.

Rapid Detection of ß-Globin Gene Mutations and Polymorphisms by Temporal Temperature Gradient Gel Electrophoresis

Ramachandran V. Shaji1,a, Eunice Sindhuvi Edison1, Balasubramanian Poonkuzhali1, Alok Srivastava1 and Mammen Chandy1

1 Department of Haematology, Christian Medical College, Vellore 632004, India.

aAuthor for correspondence. E-mail rvshaji{at}cmcvellore.ac.in.

Background: Inherited hemoglobin disorders represent the most common Mendelian disease worldwide. Prevention programs based on molecular diagnosis of heterozygous carriers and/or patients require the use of reliable mutation scanning methods in at-risk populations.

Methods: We developed a rapid and highly specific mutation-screening test based on temporal temperature gradient gel electrophoresis (TTGE). We analyzed 889 ß-thalassemia genes from homozygous ß-thalassemia patients and unrelated individuals with heterozygous ß-thalassemia. Previously reported common mutations were screened by reverse dot blots using allele-specific probes. The rare mutations were analyzed by TTGE.

Results: We found common mutations in 753 ß-thalassemia genes. TTGE analysis in the rest of the genes showed the presence of mutations in different regions of the ß-globin gene in 134 of them, and these mutations were characterized by DNA sequencing. In the two genes in which mutations were not identified, large deletions spanning ß-globin gene were suspected.

Conclusions: Compared with other approaches for comprehensive mutation screening, the reported method is rapid, highly sensitive, cost-effective, and suitable for high-throughput screening of a large number of samples.




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[Abstract] [Full Text] [PDF]


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