Scribd
Upload
25 views3 pages

Chromosome Structure and Mutations Guide

The document outlines the structure and types of chromosomes, including details on chromatids, centromeres, karyotypes, and the classification of chromosomes based on function. It also discusses mutations, their types, and effects, including genetic and chromosomal mutations, aneuploidy, and causes of mutations. Key concepts include the impact of mutations on gene function and the potential for genetic disorders.

Uploaded by

Shanida Arimao Mokamad
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd
25 views3 pages

Chromosome Structure and Mutations Guide

The document outlines the structure and types of chromosomes, including details on chromatids, centromeres, karyotypes, and the classification of chromosomes based on function. It also discusses mutations, their types, and effects, including genetic and chromosomal mutations, aneuploidy, and causes of mutations. Key concepts include the impact of mutations on gene function and the potential for genetic disorders.

Uploaded by

Shanida Arimao Mokamad
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
Available Formats
Download as PDF, TXT or read online on Scribd

MBD: TOPIC 1 CHROMOSOME STRUCTURE AND TYPES

Topic Explanation Image & Other meaning


Chromatid structure DNA is coiled tightly to fit
inside the nucleus, forming
chromatids.

Chromosomes Chromatids condense into


chromosomes, visible during
cell division.

Duplicated sister Duplicated chromatids are


chromatids attached together in a
chromosome.

Chromosome arms - P arm: shorter arm


- Q arm: longer arm

Centromere - Central structure linking


sister chromatids
- Helps in spindle fiber
attachment during cell
division
Types of - Metacentric: Centromere
chromosomes at the center, equal arms
(based on - Submetacentric:
centromere position) Centromere slightly off-
center, unequal arms
- Acrocentric: Centromere
near the end, short P arm
- Telocentric: Centromere at
the very end (not found in
humans)

Karyotype A representation of all


chromosomes in a cell.
Humans have 46
chromosomes (23 pairs).

Types of - Autosomes: First 22 pairs,


Chromosomes not involved in sex
(Based on Function) determination
- Sex Chromosomes
(Allosomes): 23rd pair,
determines biological sex
(XX = female, XY = male)
TOPIC 2 MUTATIONS AND THEIR TYPES
Type of Mutation Subtypes Image & Other meaning
Genetic Mutation - Point Mutation: Change in a
- Sudden and random single nucleotide
changes in DNA - Frameshift Mutation:
sequence that alter Insertion or deletion of
gene function nucleotides that shifts the
reading frame
Effects:
Alters the codon
sequence, leading to
defective or harmful
proteins

Chromosomal - Deletion: Loss of a


Mutation chromosome segment
- Changes in - Duplication: Extra copy of a
chromosome chromosome segment
structure, affecting - Inversion: Reversal of a
multiple genes chromosome segment
- Insertion: Segment from one
Effects: chromosome inserted into
Can cause genetic another
abnormalities or - Translocation: Exchange of
diseases due to chromosome segments
structural changes between non-homologous
chromosomes

Aneuploidy - Trisomy 21 (Down


(Chromosomal Syndrome): Extra
Number Mutation) chromosome 21
- Abnormal number of - Klinefelter Syndrome (XXY):
chromosomes in a cell Extra X chromosome in males
- Turner Syndrome (XO):
Effects: Missing one X chromosome in
Causes females
developmental,
physical, and
reproductive
abnormalities
Causes of Mutations - Radiation (UV, X-rays)
(Mutagens) - Chemicals (mutagens)
- Factors that trigger - Certain foods and
DNA or chromosomal environmental factors
changes

Effects:
Leads to genetic
disorders, defective
protein synthesis, or
evolutionary changes

You might also like