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What different types of mutations exist?

Trinucleotide repeat expansion

Mutation Accumulation

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Various types of mutations exist in the human genome, including single base-pair substitutions, micro-deletions, micro-insertions, duplications, repeat expansions, combined micro-insertions/deletions, inversions, gross deletions, insertions, and complex rearrangements . These mutations can occur in coding sequences, regulatory regions, splicing-relevant areas, promoter regions, splice junctions, introns, untranslated regions, and noncoding RNAs . Single-base-pair substitutions, particularly at CpG dinucleotides, are a common cause of gene defects . Additionally, mutations can lead to changes in transcription, translation, mRNA splicing, and processing, affecting gene function and potentially causing diseases . Understanding the diverse mechanisms and types of mutations is crucial for diagnosing hereditary disorders, developing effective therapies, and predicting clinical phenotypes based on genotypes .

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Book Chapter•DOI Human gene mutation in inherited disease: Molecular mechanisms and clinical consequences Stylianos E. Antonarakis, David Neil Cooper - Show less +1 more 01 Jan 2013 2 Citations	Single base-pair substitutions, micro-deletions, micro-insertions, gross insertions/duplications, repeat expansions, combined indels, gross deletions, inversions, and complex rearrangements are types of human gene mutations.
Journal Article•DOI Mutations and New Variation: Overview Oliver Friedrich 19 Jan 2022-eLS	Types of mutations include single nucleotide replacements, insertions, deletions, gains or losses of chromosome segments, and entire chromosomes, contributing to genetic variation within and among populations.
Open access•Posted Content Three kinds of mutation Aslak Bakke Buan, Idun Reiten, Hugh Thomas - Show less +2 more 03 May 2010-arXiv: Representation Theory 24 Citations	Three types of mutations exist: exceptional sequences, silting objects, and m-cluster tilting objects in hereditary algebras, each with distinct mutation operations for comparison.
Open access•Book Chapter•DOI The nature and mechanisms of human gene mutation David Neil Cooper, Michael Krawczak, Stylianos E. Antonarakis - Show less +2 more 01 Jan 1998 248 Citations	Single-base-pair substitutions, CpG hypermutability, gene deletions, insertions, duplications, inversions, retrotransposition, and trinucleotide repeat expansions are key types of mutations in human genes.
Book Chapter•DOI Human Gene Mutation: Mechanisms and Consequences Stylianos E. Antonarakis, David Neil Cooper - Show less +1 more 01 Jan 2010 8 Citations	Single base-pair substitutions, micro-deletions, micro-insertions, duplications, repeat expansions, combined indels, inversions, gross deletions, insertions, and complex rearrangements are types of mutations discussed in the paper.

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What are the different types of mutation that affects the color of flower?4 answersMutations affecting flower color include changes in the arrangement of cell layers in the shoot apical meristem (SAM). These mutations can result in changes in phenotypic colors in periclinal chimeras. Another type of mutation involves the regulation of carotenoid biosynthesis, where a negative regulator, CmGATA4, can affect the expression of a carotenoid degradation enzyme, CmCCD4a-5, leading to carotenoid accumulation and orange coloration in chrysanthemum. Additionally, exposure to gamma radiation and chemical mutagens can induce flower color mutants in grasspea, resulting in various unique color mutations such as pink, purple, white, and yellow. In cultivated gentians, mutations in the flavonoid 3′,5′-hydroxylase (F3′5′H) gene can cause pink coloration, while suppressor mutations can restore the blue-flower phenotype. In tobacco, down-regulation of anthocyanin biosynthetic genes and transcription factors can lead to the suppression of anthocyanin accumulation and white flower coloration.

What are the different types of genetic mutations?5 answersDifferent types of genetic mutations include single base-pair substitutions in coding, regulatory, and splicing-relevant regions of human genes, micro-deletions, micro-insertions, duplications, repeat expansions, combined micro-insertions/deletions ("indels"), inversions, gross deletions and insertions, and complex rearrangements. These mutations can occur not only in coding sequences but also in promoter regions, splice junctions, introns, untranslated regions, and noncoding RNAs. The nature, size, and location of these mutations are often determined by specific characteristics of the local DNA sequence environment or higher order features of the genomic architecture. Understanding these mutations is crucial for comprehending the pathophysiology of inherited disorders, optimizing diagnostic testing, and guiding the design of therapeutic approaches.

What is the difference between SNPs and mutations?4 answersSingle nucleotide polymorphisms (SNPs) and mutations are both forms of genetic variation, but they have some key differences. SNPs are single nucleotide changes in the DNA sequence that occur commonly in the human genome. They are the most common type of genetic variation and account for more than 90% of all human genetic variations. SNPs can be used to study the genetic basis of common diseases, complex traits, and human population ancestry. On the other hand, mutations are irreversible sequence variations in the DNA that can occur spontaneously or non-spontaneously. Mutations can encompass various types of variations in the genome and can lead to the acquisition of cancer hallmarks in the cell transformation process. While SNPs are a type of genetic polymorphism, mutations can have a broader impact on phenotypes and disease development.

Define mutation and types?5 answersMutation is a heritable change in the genetic material that is not due to genetic recombination. It can occur at any stage of the cell cycle and can change the structure or number of nucleotide sites, multiple nucleotides, entire chromosomes, or the entire genome. There are different types of mutations, including replacements, insertions, deletions of single nucleotides, gains or losses of chromosome segments or entire chromosomes. Most mutations have no detectable phenotypic effect and are neutral or slightly deleterious, while very few are beneficial. Mutations can be spontaneous or induced by mutagens in the environment, such as chemicals, radiation, viruses, diet, and lifestyle. Mutation detection and quantification have been enhanced by technological advancements in cytogenetic and molecular techniques. Different mutagenesis screening methods have been developed for various sample types, including plant, animal, and malignant tissues.

What genetic disorders are caused by mutation?4 answers

What genetic disorders are caused by mutations?3 answers

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