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Types of Chromosome Mutations Explained

There are two main types of mutations: point mutations and chromosomal aberrations. Point mutations involve small changes like the replacement, addition, or deletion of bases, such as in insertions, inversions, transpositions, and deletions. Chromosomal aberrations are larger changes that involve gaining or losing an entire chromosome, resulting in conditions like aneuploidy, which can be monosomy or trisomy. Examples of trisomies include Down syndrome caused by trisomy 21.

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18 views4 pages

Types of Chromosome Mutations Explained

There are two main types of mutations: point mutations and chromosomal aberrations. Point mutations involve small changes like the replacement, addition, or deletion of bases, such as in insertions, inversions, transpositions, and deletions. Chromosomal aberrations are larger changes that involve gaining or losing an entire chromosome, resulting in conditions like aneuploidy, which can be monosomy or trisomy. Examples of trisomies include Down syndrome caused by trisomy 21.

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Ashes To Burns
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MUTATIONS

Mutation is the permanent change in the DNA sequence of a gene or chromosome number. These are of two types: 1. Point mutations 2. Chromosomal aberration

POINT MUTATIONS
The mutation that involves the replacement, addition or deletion of a small number of bases (especially just one) at a specific site within a gene is called point mutation. mutation. E.g. deletion, insertion etc.

Insertion (Or Addition) The addition of one or a few bases in the chromosomes is called as insertion.

Inversion When a region of chromosome breaks off and rotates through 180 before rejoining the chromosome, it is called as inversion.

Transposition The type of point mutation in which a chromosomal segment is transferred to a new position on the same or another chromosome is called transposition. Deletion The loss of a region of chromosome either from the ends or internally is called deletion. It is the simplest form of mutation. For example, a partial deletion on the short arm of chromosome 5 is responsible for the "cri du chat" syndrome.

Duplication A chromosome duplication is the doubling of a chromosome piece.

CHROMOSOMAL ABERRATION
The megachanges which involve presence of an extra chromosome or loss of a chromosome from the diploid number of chromosomes are called chromosomal aberrations.
EUPLOIDY It is the state of a cell or organism having an integral multiple of the monoploid number, possibly excluding the sex-determining sex chromosomes. For example, a human cell has 46 chromosomes, which is an integer multiple of the monoploid number, 23. A human with abnormal, but integral, multiples of this full set (e.g. 69 chromosomes) would also be considered as euploid. ANEUPLOIDY Aneuploidy ploidy is a type of chromosome abnormality in which the affected individual has an abnormal number of chromosomes chromosomes. It may be monosomy or trisomy. Monosomy Monosomy refers to lack of one chromosome of the normal complement. Monosomy of the sex chromosomes (45,X) causes Turner syndrome.

Trisomy The presence of an extra chromosome is called trisomy. Trisomy 18 and Trisomy 13, known as Edwards and Patau Syndrome, respectively, are the two other autosomal trisomies recognized in live-born humans. Trisomy 21 is found in Down syndrome. Trisomy of the sex chromosomes is possible, such as in (47,XXX), (47,XXY), and (47,XYY) as in Klinefelters Syndrome. TOPIC BY: Prof. M. Umair Bhatti Head of Zoology Deptt. Govt. Degree College (Raiwind), Lahore Head of Biology Deptt. The Star Institute Member Zoological Society of Pakistan. medimind2003@[Link]

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