What is a genetic mutation

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Understanding Genetic Mutations

Definition of Genetic Mutation

A genetic mutation is a change in the DNA sequence that can be passed on to offspring. These changes can occur in germ cells, which are involved in reproduction, or in somatic cells, which make up the body. Mutations in germ cells can lead to hereditary diseases, while those in somatic cells can contribute to the development of cancers Devoret1967Evans1988.

Types of Genetic Mutations

Genetic mutations can be classified into several types based on the nature of the DNA change:

Point Mutation: A single base change in the DNA sequence.
Frameshift Mutation: Insertions or deletions of bases that alter the reading frame of the gene.
Insertion Mutation: Addition of one or more bases into the DNA sequence .

Impact of Genetic Mutations

Hereditary Diseases

Mutations in germ cells are a significant cause of inherited diseases. These mutations can affect single genes or larger chromosomal segments. The mutation rates for these diseases can vary depending on the gene and the age of the individual .

Cancer and Other Acquired Diseases

Mutations in somatic cells can lead to acquired diseases such as cancer. These mutations can be caused by exposure to physical or chemical mutagens, which increase the frequency of mutations in cells .

Neutral and Advantageous Mutations

While many mutations are neutral and do not affect the organism, some can be advantageous and are maintained through natural selection. This process of mutation and selection is a driving force of evolution .

Detection and Characterization of Mutations

The detection and characterization of genetic mutations are crucial for understanding their role in diseases and other biological processes. Techniques for identifying mutations are essential in fields such as medical research, genetic diagnosis, and next-generation sequencing .

Genetic Mutation Databases

Databases like the Human Gene Mutation Database (HGMD) compile information on germline mutations associated with human inherited diseases. These databases are invaluable resources for researchers, clinicians, and genetic counselors .

Conclusion

Genetic mutations are changes in the DNA sequence that can have a wide range of effects, from causing hereditary diseases to contributing to cancer development. Understanding the types, impacts, and detection methods of genetic mutations is essential for advancing medical research and improving genetic diagnosis.

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Most relevant research papers on this topic

Mutation

Mutations in DNA cause beneficial or detrimental effects, and are selectively maintained by a selective environment.

Literature Review

1967·

208citations

·R. Devoret

British Medical Journal·

DOI

Creation of Three‐Dimensional Pedagogical Models of Genetic Mutations

3D printed pedagogical models of genetic mutations are a strong and effective teaching tool for teaching the three main types of DNA mutations.

Rigorous Journal

2022·

0citations

·V. Paliwal et al.

The FASEB Journal·

DOI

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies

The Human Gene Mutation Database (HGMD) is a comprehensive repository of inherited mutation data for medical research, genetic diagnosis, and next-generation sequencing studies.

Rigorous Journal

2017·

1209citations

·P. Stenson et al.

Human Genetics·

DOI

Mutation and Genetics

MutationAn Introduction to Research on Mutagenesis. By Dr. Charlotte Auerbach. Part 1: Methods. Pp. xii + 176 + 4 plates. (Edinburgh and London: Oliver and Boyd, Ltd., 1962.) 12s. 6d. net.The Science of GeneticsBy Dr. Charlotte Auerbach. (Hutchinson Science Library.) Pp. x + 273. (London: Hutchinson and Co. (Publishers), Ltd., 1962.) 21s. net.

1963·

0citations

·A. Howard

Nature·

DOI

Mutation detection

The detection and characterization of mutations in genes has become a major area of interest in many areas of biology. Such variation may account for speciation, tumour formation, drug resistance, as well as the more obvious nature of inherited disease.

Literature ReviewRigorous Journal

2020·

77citations

·R. Cotton et al.

Nature·

DOI

Mutation as a cause of genetic disease.

Gene and chromosomal mutations contribute to inherited and acquired diseases, with exposure to physical or chemical mutagens increasing the incidence of these mutations in cells.

Literature Review

1988·

11citations

·H. Evans

Philosophical transactions of the Royal Society of London. Series B, Biological sciences·

DOI

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

This paper presents suggestions for reporting complex gene mutations in a unified manner, improving efficiency and accuracy in reporting and curation of human genome discoveries.

2000·

1716citations

·J. T. Dunnen et al.

Human Mutation·

DOI

Statistical tests of neutrality of mutations.

New statistical tests are developed for testing the hypothesis that all mutations at a locus are neutral, considering external and internal mutations in a random sample from a population.

1993·

4112citations

·Yunxin Fu et al.

Genetics

The mutation component of genetic damage.

The mutation component (M) is the proportion of a genetic condition's impact attributable to recurrent mutation, and can be predicted with high-sense heritability, allowing for rapid changes in impact following a change in mutation rate.

1981·

54citations

·J. Crow et al.

Science·

DOI

Evolving responsively: adaptive mutation

Adaptive mutations, stimulated by stress, allow for adaptation to stress, challenging the principle of independent genetic change.

2001·

429citations

·S. Rosenberg

Nature Reviews Genetics·

DOI

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