Review

Epplen, Jörg T.; Mäueler, Winfried; Epplen, Cornelia

doi:10.1515/bchm3.1994.375.12.795

Cited by 6 publications

References 34 publications

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Indirect DNA/gene diagnoses via electrophoresis – an obsolete principle?

et al. 1995

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In principle, gene defects can be investigated directly or indirectly via informative polymorphisms in their vicinity. But because many defects are not yet defined molecularly, these inherited diseases can only be diagnosed indirectly via analysis of informative family situations. Since (multiple) mutation analyses, e.g. via DNA sequencing, are time-consuming and expensive, indirect analysis may still be performed initially--particularly in diseases caused by heterogenous mutations. We focus on diagnoses of neurological and (auto)immune diseases by polymerase chain reaction and separation of the DNA fragments via gel electrophoreses. Even after gene defects have been identified, indirect analysis might be necessary, for example in Huntington's chorea. Although this genetic defect has been characterized as a trinucleotide disease, indirect DNA diagnosis is still performed in particular cases for psychological reasons. The causes of autoimmune diseases are multifactorial and the inheritance is complex, involving several genes. Genome-wide screening programs may involve indirect approaches via analyses of polymorphic microsatellites. Large parts of the immunological genome can be covered when 20 or more genes are investigated simultaneously. Thus the genetic bases of autoimmune diseases are disclosed. Microsatellites themselves could have a biological meaning. We therefore discuss also DNA/protein interactions for simple tandem repeats, the major targets for indirect gene diagnoses. Only indirect evidence exists that certain simple repeats influence genomic (in)stability. Taken together, indirect gene diagnoses supplement direct approaches in a variety of different purposes and in combination with standard electrophoresis techniques.

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Indirect DNA/gene diagnoses via electrophoresis – an obsolete principle?

et al. 1995

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Genome System Architecture and Natural Genetic Engineering

Shapiro¹

2002

Natural Computing Series

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DNA diagnosis of human genetic individuality

1995

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DNA studies of the human genome have shown polymorphic variation at thousands of sites, defining an absolute genetic uniqueness for each individual. There are many circumstances in which it may be desirable to diagnose this molecular individuality, as for instance, in criminal investigations or paternity testing. Several techniques can be used for this DNA diagnosis and we can choose among them the one that best suits the specific problem at hand. In this review we describe the main methodologies in current use to investigate human DNA polymorphisms, discussing the best application of each option, as well as their advantages and disadvantages.

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Review

Cited by 6 publications

References 34 publications

Indirect DNA/gene diagnoses via electrophoresis – an obsolete principle?

Indirect DNA/gene diagnoses via electrophoresis – an obsolete principle?

Genome System Architecture and Natural Genetic Engineering

DNA diagnosis of human genetic individuality

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