A Mendelian error in the
genetic analysis of a species, describes an
allele
An allele is a variant of the sequence of nucleotides at a particular location, or Locus (genetics), locus, on a DNA molecule.
Alleles can differ at a single position through Single-nucleotide polymorphism, single nucleotide polymorphisms (SNP), ...
in an individual which could not have been received from either of its biological parents by
Mendelian inheritance
Mendelian inheritance (also known as Mendelism) is a type of biological inheritance following the principles originally proposed by Gregor Mendel in 1865 and 1866, re-discovered in 1900 by Hugo de Vries and Carl Correns, and later popularize ...
. Inheritance is defined by a set of related individuals who have the same or similar
phenotype
In genetics, the phenotype () is the set of observable characteristics or traits of an organism. The term covers the organism's morphology (physical form and structure), its developmental processes, its biochemical and physiological propert ...
s 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.
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
The genotype of an organism is its complete set of genetic material. Genotype can also be used to refer to the alleles or variants an individual carries in a particular gene or genetic location. The number of alleles an individual can have in a ...
compatible with the individual. This method of determination requires
pedigree checking, however, and establishing a contradiction between phenotype and pedigree is an
NP-complete
In computational complexity theory, NP-complete problems are the hardest of the problems to which ''solutions'' can be verified ''quickly''.
Somewhat more precisely, a problem is NP-complete when:
# It is a decision problem, meaning that for any ...
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
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease that is mostly Genetic disorder#Autosomal dominant, inherited. It typically presents as a triad of progressive psychiatric, cognitive, and ...
or
Marfan syndrome
Marfan syndrome (MFS) is a multi-systemic genetic disorder that affects the connective tissue. Those with the condition tend to be tall and thin, with dolichostenomelia, long arms, legs, Arachnodactyly, fingers, and toes. They also typically ha ...
.
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See also
*
Gregor Mendel
Gregor Johann Mendel Order of Saint Augustine, OSA (; ; ; 20 July 1822 – 6 January 1884) was an Austrian Empire, Austrian biologist, meteorologist, mathematician, Augustinians, Augustinian friar and abbot of St Thomas's Abbey, Brno, St. Thom ...
*
SNP genotyping
Footnotes
Mendelian error detection in complex pedigree using weighted constraint satisfaction techniques
Genetics
error
An error (from the Latin , meaning 'to wander'Oxford English Dictionary, s.v. “error (n.), Etymology,” September 2023, .) is an inaccurate or incorrect action, thought, or judgement.
In statistics, "error" refers to the difference between t ...
NP-complete problems
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