ISSN:
1432-0584
Keywords:
β-globin
;
Unstable hemoglobins
;
Polymerase chain reaction
;
DGGE
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Summary Characterization of unstable hemoglobins by protein analysis is often difficult. However, it is facilitated by DNA analysis, especially in the case of hyperunstable β-chain variants, which produce a β-thalassemia phenotype. We have applied an efficient strategy to the detection of such variants at the DNA level, based on computer-designed denaturing gradient gel electrophoresis (DGGE) of amplified DNA fragments. This approach makes it possible to detect any anomaly in the β-globin gene. We describe the use of the DGGE method for rapid characterization of β-chain variants and report a new missense mutation in the β-globin gene third exon, β 127 CAG-CGG/Gln-Arg, which is responsible for the synthesis of a highly unstable hemoglobin.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01703113
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