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Achondroplasia is a skeletal system disorder caused by a recessive allele that can still result in a live birth in the homozygous state. [8] One mutant allele for achondroplasia can be tolerated, but having two results in death. In the case of homozygous achondroplasia, death almost invariably occurs before birth or in the perinatal period.
Autosomal traits are associated with a single gene on an autosome (non-sex chromosome)—they are called "dominant" because a single copy—inherited from either parent—is enough to cause this trait to appear. This often means that one of the parents must also have the same trait, unless it has arisen due to an unlikely new mutation.
In humans, eye color is an example of an inherited characteristic: an individual might inherit the "brown-eye trait" from one of the parents. [1] Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. [2]
Mendelian traits behave according to the model of monogenic or simple gene inheritance in which one gene corresponds to one trait. Discrete traits (as opposed to continuously varying traits such as height) with simple Mendelian inheritance patterns are relatively rare in nature, and many of the clearest examples in humans cause disorders.
This is an accepted version of this page This is the latest accepted revision, reviewed on 11 January 2025. Science of genes, heredity, and variation in living organisms This article is about the general scientific term. For the scientific journal, see Genetics (journal). For a more accessible and less technical introduction to this topic, see Introduction to genetics. For the Meghan Trainor ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3] There are well over 6,000 known genetic disorders, [4] and new genetic disorders are constantly being described in medical literature. [5]
The avoidance of expression of such deleterious recessive alleles caused by inbreeding, via inbreeding avoidance mechanisms, is the main selective reason for outcrossing. [ 6 ] [ 7 ] Crossbreeding between populations sometimes has positive effects on fitness-related traits, [ 8 ] but also sometimes leads to negative effects known as outbreeding ...