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Related Concept Videos

Mutations01:39

Mutations

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Overview
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Mutations01:35

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Mutations are changes in the sequence of DNA. These changes can occur spontaneously or they can be induced by exposure to environmental factors. Mutations can be characterized in a number of different ways: whether and how they alter the amino acid sequence of the protein, whether they occur over a small or large area of DNA, and whether they occur in somatic cells or germline cells.
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A mutation is a change in the sequence of bases of DNA or RNA in a genome. Some mutations occur during replication of the genome due to errors made by the polymerase enzymes that replicate DNA or RNA. Unlike DNA polymerase, RNA polymerase is prone to errors because it is not capable of “proofreading” its work. Viruses with RNA-based genomes, like HIV, therefore accrue mutations faster than viruses with DNA-based genomes. Because mutation and recombination provide the raw material...
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Variability: Analysis01:11

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Measures of variability are statistical metrics that reveal the dispersion pattern within a dataset. They are pivotal in biostatistics, providing insights into the heterogeneity within health and biological data. Variability signifies the degree to which data points diverge from one another, helping researchers understand the potential range of values and associated uncertainty within the data.
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Random Variables01:09

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A random variable is a single numerical value that indicates the outcome of a procedure. The concept of random variables is fundamental to the probability theory and was introduced by a Russian mathematician, Pafnuty Chebyshev, in the mid-nineteenth century.
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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Updated: Feb 13, 2026

Wild-type Blocking PCR Combined with Direct Sequencing as a Highly Sensitive Method for Detection of Low-Frequency Somatic Mutations
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Hypoplastic AI with Highly Variable Expressivity Caused by ENAM Mutations.

M Koruyucu1, J Kang2, Y J Kim3

  • 11 Department of Pedodontics, Faculty of Dentistry, Istanbul University, Istanbul, Turkey.

Journal of Dental Research
|March 20, 2018
PubMed
Summary
This summary is machine-generated.

Researchers discovered two new mutations in the ENAM gene causing hypoplastic amelogenesis imperfecta (AI). These findings expand the known spectrum of AI phenotypes linked to ENAM gene defects.

Keywords:
amelogenesis imperfectaenamelenamelinpenetrancetoothwhole exome sequencing

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Area of Science:

  • Genetics
  • Dentistry
  • Molecular Biology

Background:

  • Nonsyndromic amelogenesis imperfecta (AI) is a rare genetic disorder impacting tooth enamel formation.
  • Enamelin (ENAM) is a crucial protein in tooth enamel development.

Observation:

  • Whole exome sequencing identified two novel ENAM mutations in families with hypoplastic AI.
  • Family 1 exhibited a heterozygous splicing mutation (c.123+2T>G) leading to hypoplastic enamel.
  • Family 2 presented a nonsense mutation (c.1842C>G, p.(Tyr614*)) causing significant protein truncation.

Findings:

  • The identified mutations expand the known spectrum of genetic causes for AI.
  • Clinical phenotypes associated with heterozygous ENAM mutations varied, including incomplete penetrance and mild enamel defects.
  • A homozygous mutation was observed in one proband, further characterizing genotype-phenotype correlations.

Implications:

  • These discoveries enhance the understanding of AI pathogenesis related to ENAM gene mutations.
  • The variable expressivity of heterozygous mutations highlights the complexity of AI.
  • This research provides valuable insights for genetic counseling and potential therapeutic strategies for AI.