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These tables can be used to examine the genotypical outcome probabilities of the offspring of a single trait (allele), or when crossing multiple traits from the parents. The Punnett square is a visual representation of Mendelian inheritance, a fundamental concept in genetics discovered by Gregor Mendel. [10]
In other words, sex-limited genes cause the two sexes to show different traits or phenotypes, despite having the same genotype. This term is restricted to autosomal traits, and should not be confused with sex-linked characteristics, which have to do with genetic differences on the sex chromosomes (see sex-determination system).
This distinguishes expression quantitative traits from most complex traits, which are not the product of the expression of a single gene. Chromosomal loci that explain variance in expression traits are called eQTLs. eQTLs located near the gene-of-origin (gene which produces the transcript or protein) are referred to as local eQTLs or cis-eQTLs.
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
GWAS detect genetic variants that predict the incidence of a disease. For example, GWAS have identified genetic variants that are responsible for 10% of the heritability of Type II diabetes. [7] Under the Omnigenic Model, these detected variants may not be as important as other peripheral gene effects. [8]
Pseudoplesiomorphy – is a trait that cannot be identified as neither a plesiomorphy nor an apomorphy that is a reversal. [18] Reversal – is a loss of derived trait present in ancestor and the reestablishment of a plesiomorphic trait. Convergence – independent evolution of a similar trait in two or more taxa. Hemiplasy [19] [20]
Heritability can be univariate – examining a single trait – or multivariate – examining the genetic and environmental associations between multiple traits at once. This allows a test of the genetic overlap between different phenotypes: for instance hair color and eye color. Environment and genetics may also interact, and heritability ...
Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene that also expresses an associated trait . In medical genetics , the penetrance of a disease -causing mutation is the proportion of individuals with the mutation that exhibit clinical symptoms among all individuals with such mutation. [ 1 ]