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Related Concept Videos

Mutations01:39

Mutations

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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.
Chromosomal Alterations Are Large-Scale 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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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 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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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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Probing RNA Structure with Dimethyl Sulfate Mutational Profiling with Sequencing In Vitro and in Cells
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Mutational Profiles of

Maimiza Zahari1, Siti Aishah Sulaiman2, Zulhabri Othman2

  • 1National Blood Centre, Jalan Tun Razak, Kuala Lumpur, Malaysia.

Mediterranean Journal of Hematology and Infectious Diseases
|September 14, 2018
PubMed
Summary

This study details the first comprehensive genetic analysis of Haemophilia A and B in Malaysia. We identified numerous novel mutations in F8 and F9 genes, crucial for diagnosing these blood disorders.

Keywords:
Factor IXFactor VIIIGenetic mutationHaemophilia AHaemophilia B

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Area of Science:

  • Genetics
  • Hematology
  • Molecular Biology

Background:

  • Haemophilia A (HA) and Haemophilia B (HB) are X-linked blood disorders caused by mutations in F8 and F9 genes.
  • Identifying these mutations is critical for understanding inhibitor development.
  • This research presents the first extensive F8 mutational profile in Malaysia.

Purpose of the Study:

  • To comprehensively analyze the F8 mutational profile in Malaysian Haemophilia A patients.
  • To investigate the F9 mutational profile in Malaysian Haemophilia B patients.
  • To establish a genetic reference for diagnosing HA and HB in Malaysia.

Main Methods:

  • Analysis of 100 unrelated HA and 15 unrelated HB patients.
  • Utilized long-range PCR, DNA sequencing, and multiplex-ligation-dependent probe amplification assays.
  • Employed prediction software to assess mutation effects on factor proteins.

Main Results:

  • Identified F8 intron 22 inversion in 53% and intron 1 inversion in 3.6% of severe HA patients.
  • Discovered 22 novel F8 mutations (missense, frameshift, splice site, deletion, nonsense).
  • Found four novel F9 mutations in HB patients (splice site, deletion, missense).

Conclusions:

  • The F8 mutational spectrum in Malaysian HA patients is diverse.
  • Intron 22 inversion frequency is slightly higher in Malaysian severe HA patients compared to other Asian populations.
  • Established mutational profiles for F8 and F9 in Malaysian patients aid early diagnosis of HA and HB.