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Updated: Aug 17, 2026

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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
Published on: November 3, 2010
Testing a single dominant gene theory without an accepted criterion variable
Annals of Human Genetics
|May 1, 1978
Abstract:
In testing a single dominant gene hypothesis we often are not able directly to measure the inherited trait. A typical situation is one where we only have one or more fallible indicators of the trait under study. The statistical method proposed requires that we have measurements on several such indicators for each of the parents of probands known to possess the trait.
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Genetic Lingo
Overview
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Alleles are different forms of the same gene. Humans and other diploid organisms inherit two alleles of every gene, one from each parent.
Chi-square Analysis
The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
The chi-square test was developed by Pearson in 1990.
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The chi-square test was developed by Pearson in 1990.
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...

