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Related Concept Videos

Mutations01:39

Mutations

Overview
Gene Conversion02:08

Gene Conversion

Other than maintaining genome stability via DNA repair, homologous recombination plays an important role in diversifying the genome. In fact, the recombination of sequences forms the molecular basis of genomic evolution. Random and non-random permutations of genomic sequences create a library of new amalgamated sequences. These newly formed genomes can determine the fitness and survival of cells. In bacteria, homologous and non-homologous types of recombination lead to the evolution of new...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Point and Frameshift Mutations01:30

Point and Frameshift Mutations

Point mutations are genetic alterations involving the change of a single nucleotide base pair in DNA. Depending on how the alteration affects protein synthesis, they can lead to various consequences.Point mutations fall into the following types:Silent mutations occur when a nucleotide change does not alter the amino acid sequence due to the redundancy of the genetic code. For instance, changing ACC to ACA still encodes threonine, leaving the protein function unaffected. This occurs because...

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Generating CRISPR/Cas9 Mediated Monoallelic Deletions to Study Enhancer Function in Mouse Embryonic Stem Cells
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Published on: April 2, 2016

Human diallelic insertion/deletion polymorphisms.

James L Weber1, Donna David, Jeremy Heil

  • 1Center for Medical Genetics, Marshfield Medical Research Foundation, Marshfield, WI 54449, USA. weberj@cmg.mfldclin.edu

American Journal of Human Genetics
|September 3, 2002
PubMed
Summary
This summary is machine-generated.

Researchers identified 2,000 human insertion/deletion polymorphisms (indels) across the genome. Most indels were unique to humans, with a deletion-to-insertion ratio of 4.1, offering valuable genetic markers.

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Area of Science:

  • Genetics
  • Genomics
  • Human Evolution

Background:

  • Insertion/deletion polymorphisms (indels) are a significant source of genetic variation.
  • Understanding indel distribution and frequency is crucial for human population genetics and evolutionary studies.

Purpose of the Study:

  • To identify and characterize human diallelic indels across the genome.
  • To assess the evolutionary conservation and allele frequencies of these indels in diverse human populations.

Main Methods:

  • Candidate indels were identified by comparing overlapping genomic and cDNA sequences.
  • Indel confirmation rates were evaluated based on allele length difference.
  • Allele frequencies were measured in European, African, Japanese, and Native American populations.

Main Results:

  • 2,000 human diallelic indels were identified, with a deletion:insertion ratio of 4.1.
  • Most identified indels were monomorphic in chimpanzees and gorillas, suggesting human specificity.
  • Confirmation rates varied significantly with indel length (58% for >=2nt vs. 14% for 1nt).
  • Newer alleles generally exhibited lower frequencies, particularly in African populations.

Conclusions:

  • Diallelic indels represent approximately 8% of human polymorphisms.
  • These indels are valuable genetic markers due to their abundance and ease of analysis.
  • The findings provide insights into human genetic diversity and evolutionary history.