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Allele

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An allele is a specific version of a DNA sequence. This sequence sits at a particular location on a DNA molecule. Scientists call this specific location a locus. Alleles are what make individuals different from one another. They can differ by just one single nucleotide. They can also involve much larger changes. These changes might include insertions or deletions of thousands of base pairs.

ABO blood type
ABO blood type

Most alleles cause very little change in an organism. However, some alleles result in different observable traits, known as phenotypes. For example, bacteria can have alleles for antibiotic resistance. Fruit flies can have alleles that cause developmental mutations. In humans, different alleles can lead to various genetic diseases. These variations are the building blocks of biological diversity.

Nearly all multicellular organisms are diploid. This means they carry two sets of chromosomes. Because of this, an organism has two alleles for every locus. If both chromosomes carry the same allele, the organism is homozygous. If the two alleles are different, the organism is heterozygous.

ABO blood type
ABO blood type

These combinations determine how traits appear in a living thing.

Alleles often interact through dominance and recessiveness. This describes how a heterozygote looks compared to a homozygote. A dominant allele masks the effect of a recessive allele. In a heterozygote, the dominant allele creates the phenotype. You only see a recessive phenotype if the organism is homozygous recessive. Some traits do not follow this simple pattern. They may involve co-dominance or polygenic inheritance instead.

Gregor Mendel was a key figure in this field. He discovered that pea plant flower colors resulted from a single gene. This gene had two alleles: one for purple and one for white. His work led to three laws of inheritance. These laws explain how alleles pass to progeny, or offspring. The term "allele" is short for "allelomorph." British geneticists William Bateson and Edith Rebecca Saunders coined this in 1902. The word comes from Greek roots meaning "other form."

We can see these rules in the ABO blood group system. This system is controlled by the ABO gene. This gene has six common alleles. These alleles produce four distinct phenotypes: Type A, Type B, Type AB, and Type O.

ABO blood type
ABO blood type

A person with Type A blood might have the genotype IAIA or IAi. A person with Type AB blood has the genotype IAIB. A person with Type O blood has the genotype ii. While we use these simple categories, more than 70 alleles are actually known at this locus.

Many genetic disorders are caused by alleles. Some occur when a person inherits two recessive alleles. Examples include albinism, cystic fibrosis, and Tay–Sachs disease. Other disorders happen with just one dominant allele, such as Huntington's disease. Some conditions are more common in males. This occurs when the gene is on the X chromosome. Examples include red-green color blindness and fragile X syndrome.

Science continues to find new ways to study these variations. Researchers have discovered epialleles. These are heritable marks like DNA methylation. They are different from traditional alleles because they are not defined by nucleotide sequences. In mycology, scientists use the term "idiomorph." This describes sequences at the same locus that have no similarity. Understanding alleles helps us map the complex history of life.

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