Types of Mutations Biology

The four main types of chromosomal mutations are deletion, duplication, inversion and translocation. A fifth chromosomal mutation is known as a deficiency. This occurs when a chromosome is lost sometime during fertilization or development of a fetus.

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Human Biology revision notes and practice questions for A-Level Biology students. ... In cystic fibrosis, a mutation alters the tertiary structure of CFTR;

Deletion mutations may therefore vary from small scale to large scale. A small-scale type of deletion mutation is one in which one or more nucleotides are lost or deleted from the chromosome (microdeletions).

Down syndrome is a chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy. All affected individuals experience cognitive delays, but the intellectual disability is usually mild to moderate.

A type of mutation in which a portion of a genetic material or a chromosome is duplicated or replicated, resulting in multiple copies of that region. Supplement Duplication results from an unequal crossing-over between misaligned homologous chromosomes during meiosis.

Small-scale mutations are a type of mutation where one or few nucleotides of a gene are affected. They are further classified as follows: (1) substitution mutations, (2) insertion mutations, and (3) deletion mutations.

In biology, particularly in anatomy, the term inversion is used to refer to the movement of sole towards the median plane. In genetics, inversion is a type of large-scale mutation. Mutation is a change in the nucleotide sequence of a gene or a chromosome.

Genetic mutations are alterations in genetic material (compared to the normal condition of the species) involving modifications in the normal nucleotide sequence of a gene but without structural or numerical chromosomal changes.

Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. People with this disorder have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape.

Mutation is a change in the nucleotide sequence of a gene or a chromosome. Based on the effect of mutation on the gene structure, mutations may be: (1) small-scale mutations or (2) large scale mutations. Small-scale mutations are a type of mutation where one or few nucleotides of a gene are affected.

Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds.

(2) (genetics) Chromosomal translocation, that is a chromosomal segment is moved from one position to another, either within the same chromosome or to another chromosome. (3) (botany) Transport of soluble food material from one plant to another via phloem or xylem.