Summary of Class 12 High School Mutation Material Definition and Explanation – Mutation material is one of the chapters contained in high school class 12 biology lessons.
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Summary of Class 12 High School Transfer Material, Understanding and Explanation
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Below is a summary of class 12 high school transfer material.
A. Definition of Mutation
Mutations are changes that occur in the nucleotide sequence. There are two types of mutations, namely gene mutations (occurring in the nucleotide sequence in a gene) and chromosomal mutations (changes in the structure or number of chromosomes.)
The chance of mutations occurring in nature is quite rare, with each type of mutation having a different probability.
For example, chromosomal mutations in Down Syndrome have a 1:1,300 chance, while the rarest mutations such as KAT6A Syndrome have only been had by 150 people in the world throughout history.
B. History of Mutation Research
The mutation was first observed and documented in the early 20th century by geneticist Hugo de Vries in his studies of the Erwten bean plant (Pisum sativum.)
In the 1920s, Herman J. Muller discovered that radiation could cause genetic mutations in the fruit fly Drosophila melanogaster, confirming that environmental factors could influence mutation frequency.
The development of mutagenesis techniques has allowed scientists to induce mutations intentionally in the laboratory, enabling the study of the effects of specific mutations on organisms.
The understanding of the structure of DNA by James Watson and Francis Crick in 1953 paved the way for further research into the mechanisms of mutation and their impact on the inheritance of traits.
Since then, mutation research has continued to develop, expanding our understanding of the role of mutations in evolution, human health, and genetic variation among species.
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C. Causes of Mutations
Mutations are changes in information in DNA that can occur on a small scale of a few nucleotide bases or on a large scale involving millions of nucleotide bases.
These changes can produce genetic variations and affect the proteins produced, causing differences in living things.
The cause of mutations is also influenced by internal and external factors called mutagens.
For example, exposure to radiation or chemicals. Several diseases or disorders that occur in humans are caused by mutations, including color blindness and thalassemia.
There are different types of mutations including substitutions, deletions, insertions, duplications, inversions, and translocations. Environmental factors that cause mutations can be divided into three, namely:
1. Radiation or Physical Factors
This is radiation that is mutagenic, including from cosmic rays, ultraviolet rays, gamma rays, X-rays, beta particles, neutron emissions from heavy ions, and other rays that have ionizing power.
Radiation is emitted by materials that are radioactive. A radioactive substance can change spontaneously into another substance that emits radiation. Some radiation causes ionization, some does not.
Radiation that causes ionization can penetrate materials, including living tissue, through cells and ionize substance molecules in cells.
So that these substances do not function normally or even become damaged. Visible light, radio waves and heat from the sun or fire, also form radiation, but are not destructive.
2. Chemical Factors
Chemical factors that cause mutations are certain chemical substances that have mutagenic properties, namely the ability to change the structure or sequence of DNA.
These chemical mutagens can affect the DNA replication process causing changes in the sequence of nucleotide bases, or damage the nucleotide bases directly.
For example, some chemicals such as pesticides, aziridine compounds, and food preservatives have the ability to cause genetic mutations when exposed to living organisms.
Chemical mutagens can disrupt the normal function of DNA, cause genetic damage, and ultimately, affect gene expression and the phenotype of organisms exposed to the mutagen.
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3. Biological Factors
Biological factors that cause mutations are various natural biological processes that can result in changes to the DNA nucleotide sequence.
These factors include incomplete DNA replication, exposure to chemicals produced by other organisms (such as free radicals), and enzyme activity that can affect DNA structure.
In addition, natural mechanisms such as genetic recombination and transfer of transposable elements can also cause mutations.
These biological factors can contribute to genetic diversity and evolution, but can also be the cause of various genetic diseases and pathological conditions.
D. Type of mutation
Mutations at the gene level are called point mutations, while mutations that occur at the chromosomal level are called aberrations.
Gene mutations can produce new alleles and become the basis of genetic variation in species. The frequency of mutations in nature is generally low, often less than 1:10,000 individuals. Mutations have several types, namely:
1. Point Mutations
Point mutations are changes in the N base of DNA or RNA that occur frequently and can be reduced by gene restoration mechanisms.
These changes can cause changes in the amino acid sequence in proteins, as well as changes or loss of enzyme function.
Point mutations are used in technology as markers (SNP) to study changes in genes and phenotypes.
Examples of gene mutations include silent mutations, non-sense mutations, miss-sense mutations, and frameshift mutations.
2. Chromosomal Mutations
Chromosomal mutations are major changes in genetic material that can occur in chromosomes.
There are four types of chromosome mutations, namely deletion, translocation, inversion and duplication.
A deletion is the loss of part of a chromosome, causing the loss of an important gene and can result in death in the individual.
In addition, there are also insertions, where pieces of chromosomes are added.
3. Aneuploidy Mutation
Aneuploidy is a change in the number of chromosomes which indicates the number of sets of chromosomes. For example, humans have 2 sets of chromosomes (2n), with each human set totaling 23 chromosomes.
Aneuploidy is divided into autopolyploidy and allopolyploidy. Autopolyploidy occurs due to meiotic errors resulting in an increase in the number of chromosome sets (n)
Meanwhile, allopolyploidy occurs when mating or hybridization occurs between species with different sets of chromosomes.
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4. Aneusomy mutation
Aneusomy is a change in the number of chromosomes caused by anaphase lag (the spindle fibers are not attached to the centromere) and non-disjunction (failure to separate.)
Aneusomy in humans can result in several genetic syndromes, including:
Klinefelter syndrome (XXY chromosome), causes reproductive disorders in males.
Jacobs syndrome (XYY chromosome), is linked to psychological problems and research shows a link to higher crime rates.
Turner syndrome (45X0), causes reproductive disorders in women with deficient sex chromosomes.
Patau syndrome (trisomy of chromosome 13), resulting in serious abnormalities in the body’s organs and structures.
Edward’s syndrome (trisomy of chromosome 18), is characterized by abnormal physical characteristics such as an oval skull and short, broad shoulders.
5. Translocation Mutations
This mutation involves the transfer of part or all of a DNA segment from one chromosome to another chromosome.
Translocations can occur between homologous chromosomes (reciprocal translocation) or between non-homologous chromosomes (non-reciprocal translocation.)
Translocation mutations are often associated with different genetic conditions, depending on the location and effects of the transferred DNA segment.
E. Impact of Mutations on Life
In reality, mutations have a huge impact on life because they can have both positive and negative impacts. Below are a few examples of the impact of mutations on life.
Positive impact
1. Cancer Treatment
Understanding the genetic mutations associated with cancer development can help in the development of more effective therapies.
2. Treatment of hereditary diseases
Treatment of hereditary diseases can be done with gene therapy.
The application of this therapy involves the use of viral vectors to deliver the correct gene into the patient’s cells could be a solution to genetic diseases caused by specific mutations.
3. Plant Breeding
Mutations can be used in plant breeding to produce new plant varieties with desired traits, such as resistance to certain pests, diseases, or environmental conditions.
4. Increased Productivity
Breeding using mutations can increase plant productivity by creating varieties that are more resistant to environmental stress, increasing crop yields and improving the quality of agricultural products.
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Negative impact
1. Genetic Disease
Genetic mutations can cause various genetic diseases, such as cystic fibrosis, thalassemia, or muscular dystrophy.
2. Cancer
Some mutations can cause uncontrolled cell growth, which is a characteristic of cancer. Mutations in certain genes can increase the risk of cancer.
3. Fetal Abnormalities
Mutations that occur during early embryonic cell division can cause serious chromosomal abnormalities in the fetus, such as Down or Edwards syndrome.
4. Loss of Biological Function
Mutations in genes coding for important proteins can result in loss of vital biological functions, which can disrupt normal cellular processes and potentially result in disease.
5. Heredity Defects
Certain genetic mutations can be inherited and cause hereditary disabilities, which can affect the quality of life and health of the next generation.
6. Inability to Defend
Some mutations can produce varieties of organisms that cannot survive in a particular environment, reducing the survival of that population.
This is a summary of class 12 high school transfer material that can be provided. Hopefully this article is useful for those who need it.
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2024-02-09 03:47:37
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