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Zygosity determination in newborn twins using DNA variants.

C Derom, E Bakker, R Vlietinck

Journal of Medical Genetics

|August 1, 1985

Summary

Accurate zygosity determination is crucial for human genetics research. DNA variants, specifically restriction fragment length polymorphisms, effectively distinguish monozygotic from dizygotic twins, aiding genetic studies.

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Area of Science:

Human Genetics
Molecular Biology
Forensic Science

Background:

Accurate zygosity determination is essential for the twin method in human genetics.
Current methods are sometimes limited by a lack of specific genetic markers.
The twin method relies on distinguishing between monozygotic (identical) and dizygotic (fraternal) twins.

Purpose of the Study:

To evaluate the utility of DNA variants, specifically restriction fragment length polymorphisms (RFLPs), as genetic markers for zygosity determination.
To assess the accuracy of using RFLPs for distinguishing monozygotic (MZ) from dizygotic (DZ) twins.

Main Methods:

Analysis of placental DNA from 22 twin pairs with known zygosity.
Utilized Southern blot hybridization with polymorphic human DNA probes.

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Examined six different polymorphic DNA sites using four restriction enzymes and six DNA probes.

Main Results:

Complete concordance was observed within all 12 monozygotic (MZ) twin pairs.
Seven out of 10 dizygotic (DZ) twin pairs showed at least two discordant DNA variants.
Nine of 10 DZ pairs and all 12 MZ pairs were correctly assigned zygosity using the DNA variants.

Conclusions:

DNA variants, particularly RFLPs, are highly effective genetic markers for accurate zygosity determination at birth.
This method offers practical applications for antenatal diagnosis and paternity testing.
The use of polymorphic DNA probes enhances the reliability of zygosity assessment in human genetics.