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Genetic disorders are diseases that are caused by a single allele of a gene and are inherited in families. These include Huntington's disease, cystic fibrosis or Duchenne muscular dystrophy. Cystic fibrosis, for example, is caused by mutations in a single gene called CFTR and is inherited as a recessive trait. [16]
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.
Inherited traits are controlled by genes and the complete set of genes within an organism's genome is called its genotype. [2] The complete set of observable traits of the structure and behavior of an organism is called its phenotype. These traits arise from the interaction of the organism's genotype with the environment. [3]
The discrete versions of the same gene controlling the inherited appearance (phenotypes) are called alleles. [19] [44] In the case of the pea, which is a diploid species, each individual plant has two copies of each gene, one copy inherited from each parent. [45] Many species, including humans, have this pattern of inheritance.
A gene can acquire mutations in its sequence, leading to different variants, known as alleles, in the population. These alleles encode slightly different versions of a gene, which may cause different phenotypical traits. [4] Genes evolve due to natural selection or survival of the fittest and genetic drift of the alleles.
Some genes only express a given phenotype in certain environmental conditions. Conversely, some phenotypes could be the result of multiple genotypes. The genotype is commonly mixed up with the phenotype which describes the result of both the genetic and the environmental factors giving the observed expression (e.g. blue eyes, hair color, or ...
Genetic linkage is the most prominent exception to Gregor Mendel's Law of Independent Assortment. The first experiment to demonstrate linkage was carried out in 1905. At the time, the reason why certain traits tend to be inherited together was unknown. Later work revealed that genes are physical structures related by physical distance.
Genetic variation can be identified at many levels. Identifying genetic variation is possible from observations of phenotypic variation in either quantitative traits (traits that vary continuously and are coded for by many genes, e.g., leg length in dogs) or discrete traits (traits that fall into discrete categories and are coded for by one or a few genes, e.g., white, pink, or red petal color ...