Rapid detection of point mutations and polymorphisms of the α-globin genes by DGGE and SSCA

We report the application of DGGE and SSCA for the identification of point mutations causing α‐thalassemia. The α‐globin genes were amplified in three overlapping fragments of 250 bp (I), 540 bp (II), and 600 bp (III), respectively. Fragments II and III were analyzed by DGGE, while fragments I and I...

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Veröffentlicht in:	Human mutation 1996, Vol.7 (2), p.114-122
Hauptverfasser:	Harteveld, Kees L., Heister, Angelien J.G.A.M., Giordano, Piero C., Losekoot, Monique, Bernini, Luigi F.
Format:	Artikel
Sprache:	eng
Schlagworte:	alpha-Thalassemia - genetics Base Sequence Denaturing gradient gel electrophoresis DNA Mutational Analysis DNA Primers DNA, Recombinant - genetics Electrophoresis, Polyacrylamide Gel Genetic Testing Globins - genetics Heterozygote Humans Molecular Sequence Data Mutational analysis Nucleic Acid Denaturation Nucleic Acid Hybridization Point Mutation Polymerase Chain Reaction Polymorphism, Genetic - genetics Polymorphism, Single-Stranded Conformational Single-strand conformational polymorphic analysis Temperature α-Globin gene α-Thalassemia
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