Medical Genetics - V. M. Zaporozhan 2005

Methods for Diagnosing Hereditary Diseases
Molecular-Genetic Methods (DNA Diagnostic Methods)
Other DNA Diagnostic Methods — DNA Sequencing

This method allows the Determination of the exact nucleotide sequence in a DNA fragment (for example, in a PCR product). It is used to detect nucleotide substitutions within a Gene. This approach has found wide application in studying The Structure of human DNA and the genomes of other organisms as part of the Human Genome Project. In practice, the Sanger sequencing method, which is based on the Polymerase Chain Reaction, is frequently employed. However, its widespread use in clinical genetics remains limited due to high costs.

Class="center">

Fig. 10.12. DNA Diagnostics of Duchenne muscular dystrophy using Southern blot Hybridization. Lanes 1 and 3 show the normal pattern with two obligatory fragments visible (indicated by arrows). Lane 2 shows a patient sample lacking two obligatory fragments, which indicates a deletion in the dystrophin gene region. In lane 4 (the patient's mother), these fragments appear as bands of reduced intensity, indicating heterozygous carrier status for the mutation.



Last update: 11/08/2026

Editorial and Educational Adaptation: This material has been compiled based on the primary/original source text. The project team performed an editorial review, corrected technical inaccuracies, structured sections, and adapted the content for an educational format.

What was processed:

  • elimination of formatting defects (OCR errors, structural breaks, corrupted characters);
  • editorial organization of content;
  • standardization of terminology in accordance with academic sources;
  • verification of factual statements against the original source text.

All mentions of the author, publication year, and origin of the primary text have been preserved in accordance with the source.