12.1
A gene is a segment of DNA located on a chromosome that carries genetic information. Alleles are different forms of the same gene.
In diploid organisms, one allele for each gene is inherited from each parent. The specific location of a gene or allele on a chromosome is called a locus. The two inherited alleles are located at the same locus on a pair of homologous chromosomes, with one chromosome inherited from the mother and the other from the father.
This pair of alleles is called the genotype for that gene. The observable trait, or phenotype, such as eye color, is influenced by this inherited combination.
Several genes influence human eye color. But for simplicity, consider a one-gene model with two alleles, brown and blue, represented by uppercase B and lowercase b, respectively, to explain how genotype relates to phenotype.
If both alleles are identical, such as two brown alleles or two blue alleles, the genotype is called homozygous. On the other hand, if the alleles are different, such as one brown allele and one blue allele, the genotype is called heterozygous.
The same phenotype, such as brown eyes, can result from different genotypes. For example, both, a homozygous brown genotype and a heterozygous genotype, can produce brown eyes.
This happens because some alleles are dominant, meaning they are expressed even when only one copy is present. Other alleles are recessive, meaning they are expressed only when two copies of the recessive allele are present.
In this example, the brown allele is dominant and is written with an uppercase B, while the blue allele is recessive and is written with a lowercase b. So, both the homozygous brown genotype and the heterozygous genotype result in brown eyes.
The recessive allele affects the phenotype only in a homozygous recessive genotype. So, blue eyes appear only when both alleles are recessive.
An organism is diploid if it inherits two variants, or alleles, of each gene, one from each parent. These two alleles constitute the genotype for a gi…
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