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Updated: Jun 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

Multiplex ABO genotyping by minisequencing.

Gianmarco Ferri¹, Susi Pelotti

¹Department of Diagnostic and Laboratory Service, Section of Legal Medicine, University of Modena Reggio Emilia, Italy.

Methods in Molecular Biology (Clifton, N.J.)

|October 8, 2008

Summary

This study presents a reproducible minisequencing multiplex reaction for ABO blood group genotyping. The method efficiently types common ABO alleles, offering a rapid and sensitive approach for forensic science applications.

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Area of Science:

Genetics
Forensic Science
Molecular Biology

Background:

Accurate ABO blood group genotyping is crucial for transfusion medicine and forensic investigations.
Existing methods like RFLP and SSCP analysis can be time-consuming and complex.

Purpose of the Study:

To describe and discuss a novel minisequencing multiplex reaction for ABO blood group system genotyping.
To evaluate the method's reproducibility, specificity, and sensitivity.

Main Methods:

Development and application of a minisequencing multiplex reaction.
Typing of six common ABO alleles (A1, A2, B, 01, 01V, and 02).

Main Results:

The minisequencing multiplex reaction proved to be a reproducible strategy for ABO blood group typing.
The method demonstrated high specificity and sensitivity, suitable for forensic applications.
Interpretation of ABO genotypes was unambiguous and faster than RFLP and SSCP analysis.

Conclusions:

The minisequencing multiplex reaction is a reliable and efficient method for ABO blood group genotyping.
Its speed and accuracy make it advantageous for forensic science.
The method allows for easy investigation of new mutations by adding extension primers.