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, chimerism [2], 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.[3]

See also

Footnotes

  1. ^ "Mendelian error detection in complex pedigree using weighted constraint satisfaction techniques" (PDF). 209.85.165.104. Retrieved 2015-08-13.
  2. ^ Ross, C.N.; French, J.A.; Orti, G. (2007). "Germ-line chimerism and paternal care in marmosets (Callithrix kuhlii)". Proc. Natl. Acad. Sci. U.S.A. 104 (15): 6278–6282. doi:10.1073/pnas.0607426104. PMC 1851065.
  3. ^ "Statistical Genetics Analysis". bioinf.wehi.edu.au. Retrieved 2008-07-13.
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