Jun 6, 2015

Understanding Mutations: Types, Causes, and Genetic Disorders

Mutations (in Latin Mutatus means Change) are permanent changes in genes or chromosomes that can be passed to offspring if they occur in cells that become gametes. There are two main types of mutations: Chromosomal Mutations and Gene Mutations.

Chromosomal Mutations

Chromosomal mutations are changes that occur in the structure or number of chromosomes. They can result in significant alterations to an individual's genetic makeup. There are two main types of chromosomal mutations: changes in chromosome number and changes in chromosome structure.

Changes in Chromosome Number

Changes in chromosome number involve alterations to the total number of chromosomes in an organism's cells. This can occur due to errors in the process of meiosis, where chromosomes are supposed to separate evenly. Examples of changes in chromosome number include monosomy, trisomy, and polyploidy.

Monosomy and Trisomy

Monosomy occurs when an individual has only one copy of a particular type of chromosome (2n-1), while trisomy occurs when an individual has three copies of a particular type of chromosome (2n+1). Monosomy and trisomy are usually caused by non-disjunction during meiosis, where chromosomes fail to separate properly. Monosomy and trisomy can occur in both plants and animals. For example, Turner syndrome in humans is a monosomy of the sex chromosomes, where the individual inherits only a single X chromosome. Down syndrome, which involves an extra copy of chromosome 21, is the most common trisomy among humans.

Polyploidy

Polyploidy refers to the presence of more than two sets of chromosomes in an organism. Polyploid organisms can be triploid (3n), tetraploid (4n), pentaploid (5n), and so on. Polyploidy is not seen in animals, but it is estimated that 47% of all flowering plants are polyploids. Polyploidy is commonly observed in crops such as wheat, corn, cotton, sugarcane, and fruits such as watermelons, bananas, and apples. Polyploids generally arise following hybridization, where chromosomes from different species are combined.

Changes in Chromosome Structure

Changes in chromosome structure occur when the arrangement of genetic material within a chromosome is altered. This can happen due to various environmental factors such as radiation, certain chemicals, or viral infections, which can cause chromosomes to break. When the broken ends of chromosomes do not rejoin in the same pattern as before, it results in changes in chromosomal structure.

Inversion

Inversion occurs when a segment of a chromosome is turned around 180 degrees. This can result in rearrangement of genes within the inverted segment, potentially affecting gene function or regulation.

Translocation

Translocation is the movement of a chromosome segment from one chromosome to another non-homologous chromosome. This can result in the fusion of two chromosomes or the transfer of a segment of genetic material to a different chromosome, potentially disrupting gene function or regulation.

Deletion

Deletion occurs when an end of a chromosome breaks off or when two simultaneous breaks lead to the loss of an internal segment. Deletions can result in the loss of one or more genes, potentially leading to the loss or alteration of specific traits. An example of a deletion mutation is cri du chat (cat's cry) syndrome, where a portion of chromosome 5 is deleted.

Duplication

Duplication is the doubling of a chromosome segment. This can result in the presence of multiple copies of a gene or genes, potentially leading to changes in gene dosage or function.

In conclusion, chromosomal mutations are permanent changes in the structure or number of chromosomes, which can have significant effects on an organism's genetic makeup.

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Types of chromosomal mutations



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