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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]
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]
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.
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.
The transmission of genes to an organism's offspring, is the basis of the inheritance of phenotypic traits from one generation to the next. These genes make up different DNA sequences, together called a genotype, that is specific to every given individual, within the gene pool of the population of a given species.
The phenotype is a general term that defines an individual's visible, physical traits. The genotype of an offspring is known as its genetic makeup. The alleles of genes can either be dominant or recessive. A dominant allele needs only one copy to be expressed while a recessive allele needs two copies (homozygous) in a diploid organism to be ...
Any given gene will usually cause an observable change in an organism, known as the phenotype. The terms genotype and phenotype are distinct for at least two reasons: To distinguish the source of an observer's knowledge (one can know about genotype by observing DNA; one can know about phenotype by observing outward appearance of an organism).
There may be multiple variants of any given gene in the human population , a situation called polymorphism. No two humans are genetically identical. Even monozygotic twins (who develop from one zygote) have infrequent genetic differences due to mutations occurring during development and gene copy-number variation. [1]