Mendelian error

A Mendelian error in the genetic analysis of a species, describes an allele in an individual which could not have been received from either of its biological parents by Mendelian inheritance. Inheritance is defined by a set of related individuals who have the same or similar phenotypes for a locus of a particular gene. A Mendelian error means that the very structure of the inheritance as defined by analysis of the parental genes is incorrect: one parent of one individual is not actually the parent indicated; therefore the assumption is that the parental information is incorrect.^[1]

Possible explanations for Mendelian errors are genotyping errors, erroneous assignment of the individuals as relatives, or de novo mutations. Mendelian error is established by demonstrating the existence of a trait which is inconsistent with every possible combination of genotype compatible with the individual. This method of determination requires pedigree checking, however, and establishing a contradiction between phenotype and pedigree is an NP-complete problem. Genetic inconsistencies which do not correspond to this definition are Non-Mendelian Errors.

Statistical genetics analysis is used to detect these errors and to detect the possibility of the individual being linked to a specific disease linked to a single gene. Examples of such diseases in humans caused by single genes are Huntington's disease or Marfan syndrome.^[2]

• Gregor Mendel
• SNP genotyping

• Mendelian error detection in complex pedigree using weighted constraint satisfaction techniques

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