Rapid detection of [Beta]-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis

From: Clinical Chemistry | Date: May 1, 2003| Author: | Copyright information

Clinical Chemistry 49:5 777-781 (2003)

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 [beta]-thalassemia genes from homozygous [beta]-thalassemia patients and unrelated individuals with heterozygous [beta]-thalassemia. ...

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