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Related Concept Videos

Lethal Alleles

Lethal Alleles

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

Genetic Lingo

Genetic Lingo

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Multiple Allele Traits

Multiple Allele Traits

The Concept of Multiple Allelism

Law of Independent Assortment

Law of Independent Assortment

While Mendel’s Law of Segregation states that the two alleles for one gene are separated into different gametes, a different question of how different genes are inherited remains. For example, is the gene for tall plants inherited with the gene for green peas? Mendel asked this question by experimenting with a dihybrid cross; a cross in which both parents are homozygous for two distinct traits resulting in an F1 generation that are heterozygous for both traits.

Law of Independent Assortment

Law of Independent Assortment

While Mendel’s Law of Segregation states that the two alleles for one gene are separated into different gametes, a different question of how different genes are inherited remains. For example, is the gene for tall plants inherited with the gene for green peas? Mendel asked this question by experimenting with a dihybrid cross; a cross in which both parents are homozygous for two distinct traits resulting in an F1 generation that are heterozygous for both traits.

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Related Experiment Video

Updated: Jul 8, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

A lesson not learned: allele misassignment.

Philipp G Sand¹

¹Department of Psychiatry, University of Regensburg, Germany. philipp.sand@klinik.uni-regensburg.de.

Behavioral and Brain Functions : BBF

|December 25, 2007

Summary

This summary is machine-generated.

Misassigned alleles can compromise genetic association studies, particularly for the DRD2 gene variant in schizophrenia research. This common error, seen with rs1801028, highlights the need for robust quality control in genetic analyses.

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Last Updated: Jul 8, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

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Area of Science:

Genetics
Neuroscience
Bioinformatics

Background:

Misassigned alleles pose a significant threat to the quality and validity of genetic association studies.
The issue is underreported, with a specific diallelic DRD2 missense variant in schizophrenia research serving as a case in point.
Allele frequency data for this DRD2 variant have been repeatedly misassigned or incorrectly cited.

Discussion:

The single nucleotide polymorphism (SNP) rs1801028, involving a G:C transversion, has been subject to erroneous allele frequency reporting.
Low heterozygosity does not prevent misassignment errors, contrary to previous assumptions.
This highlights a critical confounder in genotype-phenotype association studies that requires systematic investigation.

Key Insights:

Misassigned alleles can invalidate genetic association analyses, even in well-designed studies.
The DRD2 gene variant rs1801028 is a documented example of recurring allele misassignment.
Standard quality control measures may not inherently prevent or detect such errors.

Outlook:

Developing systematic methods to identify and correct misassigned alleles is crucial.
Further research is needed to understand the full impact of allele misassignment on genotype-phenotype associations.
Implementing rigorous data validation protocols can mitigate the risks associated with misassigned alleles in genetic research.