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Human DNA polymorphisms and methods of analysis.

¹Marshfield Medical Research Foundation, Wisconsin 54449-5790.

Current Opinion in Biotechnology

|December 1, 1990

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Polymerase chain reaction (PCR) methods, especially microsatellite polymorphisms, are poised to replace RFLP analysis for genetic mapping due to higher efficiency and informativeness. PCR-based techniques offer significant advantages for large-scale genomic studies and DNA fingerprinting.

Area of Science:

Genetics
Molecular Biology
Bioinformatics

Background:

Restriction Fragment Length Polymorphism (RFLP) analysis is the current standard for analyzing base substitution polymorphisms.
RFLP methods face limitations in sensitivity and genotyping rate compared to newer techniques.

Purpose of the Study:

To evaluate emerging PCR-based methods for DNA polymorphism analysis.
To compare the utility of base substitution polymorphisms and tandem repeat polymorphisms for genetic mapping and other applications.

Main Methods:

Polymerase Chain Reaction (PCR) based methods, including allele-specific PCR and single-stranded conformational analysis.
Analysis of microsatellite polymorphisms for linkage mapping and DNA fingerprinting.

Main Results:

Related Experiment Videos

PCR methods offer improved sensitivity and genotyping rates over RFLP analysis.
Microsatellite polymorphisms are significantly more informative and faster to type than base substitution RFLPs, making them ideal for large-scale linkage mapping.
PCR-based methods, particularly using microsatellites, are expected to dominate future genomic analysis and DNA fingerprinting.

Conclusions:

PCR-based techniques, especially those utilizing microsatellite polymorphisms, will largely replace RFLP analysis for genetic mapping and DNA fingerprinting.
Base substitution polymorphism analysis will remain crucial for diagnostic applications in disease-gene detection.