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Mutations01:39

Mutations

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Overview
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Mutations01:35

Mutations

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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.
Chromosomal Alterations Are Large-Scale Mutations
While point mutations are changes in a single nucleotide in...
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Lethal Alleles02:41

Lethal Alleles

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Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...
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Viral Mutations00:36

Viral Mutations

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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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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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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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Mutations in Microorganisms01:18

Mutations in Microorganisms

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Mutations are heritable changes in an organism’s genome involving alterations in the base sequence of DNA or RNA. These changes can influence cellular processes and phenotypic traits, potentially transforming the unaltered wild type into a mutant form. Such changes, termed forward mutations, are pivotal in shaping the genetic diversity of organisms.RNA viruses exhibit the highest mutation rates due to the absence of robust proofreading mechanisms during genome replication. In contrast,...
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A Non-Lethal Osteogenesis Imperfecta Type II Mutation.

Ali Alhousseini1,2, Maheshwar Mahaseth3, Salam Zeineddine4

  • 1Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan, USA, fz2891@wayne.edu.

Gynecologic and Obstetric Investigation
|November 9, 2018
PubMed
Summary
This summary is machine-generated.

A novel COL1A1 mutation caused Osteogenesis Imperfecta type II, but with a non-lethal outcome. This case highlights genetic mutation variability and the importance of clinical course in OI diagnosis.

Keywords:
AmniocentesisBisphosphonateCOL1A1 mutationCollagenFetal fracturesSkeletal dysplasiaUltrasound

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Area of Science:

  • Genetics
  • Pediatrics
  • Medical Ethics

Background:

  • Osteogenesis Imperfecta (OI) type II is typically lethal.
  • A novel COL1A1 mutation was identified in a fetus diagnosed with OI type II.

Observation:

  • A 21-week ultrasound revealed skeletal abnormalities consistent with OI type II.
  • Genetic testing identified a new COL1A1 mutation (c.1840G>A; p.Gly614Arg).
  • A similar mutation at a different locus (c.1840G>C; p.Gly614Arg) is known to cause lethal OI type II.

Findings:

  • The infant, treated with Zoledronic acid, survived and is growing at 22 months.
  • The infant exhibits mild bilateral conductive hearing loss.
  • Phenotypic variability was observed despite a severe genetic mutation.

Implications:

  • Genetic mutations can exhibit significant phenotypic variability.
  • OI diagnosis requires consideration of clinical course over time, not solely genetic findings.
  • Ethical decision-making is crucial in managing severe genetic conditions with uncertain prognoses.