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Efficient human paternity testing with a panel of 40 short insertion-deletion polymorphisms.

J R Pimenta¹, S D J Pena

¹GENE-Núcleo de Genética Médica, Belo Horizonte, MG, Brasil.

Genetics and Molecular Research : GMR

|April 15, 2010

Summary

A new panel of 40 short insertion-deletion (indel) markers offers a simple, low-cost, and highly accurate tool for human paternity testing. This genetic testing method provides excellent performance, comparable to established systems.

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Area of Science:

Forensic Genetics
Human Identification
Population Genetics

Background:

Established DNA profiling systems, like those using microsatellites, are crucial for human identification.
There is a continuous need for improved genetic markers that are cost-effective, simple to use, and highly discriminating.

Purpose of the Study:

To develop and evaluate a novel panel of 40 short insertion-deletion (indel) polymorphic loci for human identification.
To assess the performance of this indel panel in paternity testing and compare it with existing standards.

Main Methods:

Development of a multiplex panel of 40 short indel markers with near 0.50 allele frequencies in Europeans.
Genotyping of 360 White Brazilians and 50 mother-child-father trios.
Calculation of genetic parameters including heterozygosity, probability of identity, and power of exclusion.

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Main Results:

The 40-locus indel panel demonstrated high average heterozygosity (0.48) and an extremely low combined probability of identity (3.48 x 10(-17)).
The panel achieved a combined power of exclusion of 0.9997, performing equivalently to the 13-locus CODIS microsatellite set.
A high geometric mean paternity index of 17,607 was observed in the tested trios.

Conclusions:

The developed 40-locus short indel panel exhibits excellent performance characteristics for human identification.
Its simplicity, low cost, and low mutation rates make it a valuable new tool for routine human paternity testing.
This indel panel offers a robust and efficient alternative for forensic and paternity casework.