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    Dr. Asif

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    Robina khan
    Genomic structural variation refers to changes in chromosome structure, including deletions, duplications, inversions, and other variants. Microscopic structural variants are detectable under an optical microscope and affect about 1 in 375 live births. Submicroscopic variants less than 100 base pairs in size are much more common, affecting an estimated 16-20% of individuals, though many remain undetected. Copy number variations, which include insertions, deletions and duplications, also contribute significantly to structural variation in human genomes. Inversions can cause genetic diseases but are also common non-pathogenic variants, with individuals sometimes possessing over 50 putative inversions. More complex structural variants combining these basic types in a single event also exist but can be difficult to

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    Dr. Asif

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    Genomic structural variation refers to changes in chromosome structure, including deletions, duplications, inversions, and other variants. Microscopic structural variants are detectable under an optical microscope and affect about 1 in 375 live births. Submicroscopic variants less than 100 base pairs in size are much more common, affecting an estimated 16-20% of individuals, though many remain undetected. Copy number variations, which include insertions, deletions and duplications, also contribute significantly to structural variation in human genomes. Inversions can cause genetic diseases but are also common non-pathogenic variants, with individuals sometimes possessing over 50 putative inversions. More complex structural variants combining these basic types in a single event also exist but can be difficult to

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    Genomic structural variation refers to changes in chromosome structure, including deletions, duplications, inversions, and other variants. Microscopic structural variants are detectable under an optical microscope and affect about 1 in 375 live births. Submicroscopic variants less than 100 base pairs in size are much more common, affecting an estimated 16-20% of individuals, though many remain undetected. Copy number variations, which include insertions, deletions and duplications, also contribute significantly to structural variation in human genomes. Inversions can cause genetic diseases but are also common non-pathogenic variants, with individuals sometimes possessing over 50 putative inversions. More complex structural variants combining these basic types in a single event also exist but can be difficult to

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    16 views7 pages

    Dr. Asif

    Uploaded by

    Robina khan
    Genomic structural variation refers to changes in chromosome structure, including deletions, duplications, inversions, and other variants. Microscopic structural variants are detectable under an optical microscope and affect about 1 in 375 live births. Submicroscopic variants less than 100 base pairs in size are much more common, affecting an estimated 16-20% of individuals, though many remain undetected. Copy number variations, which include insertions, deletions and duplications, also contribute significantly to structural variation in human genomes. Inversions can cause genetic diseases but are also common non-pathogenic variants, with individuals sometimes possessing over 50 putative inversions. More complex structural variants combining these basic types in a single event also exist but can be difficult to

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    Dr.

    Asif
    Structural Variation in the Genomes
    • a change in form, position, or condition
    • Genomic structural variation is the variation in structure of an
    organism's chromosome.
    • It consists of many kinds of variation in the genome of one species,
    and usually includes microscopic and submicroscopic types, such as
    deletions, duplications, copy-number variants,
    insertions, inversions and translocations.
    Microscopic structural variation

    • Microscopic means that it can be detected with optical microscopes,


    such as aneuploidies, marker chromosome, gross rearrangements and
    variation in chromosome size.
    •  The frequency in human population is thought to be underestimated
    due to the fact that some of these are not actually easy to identify.
    • These structural abnormalities exist in 1 every 375 live births by
    putative information
    Sub-microscopic structural variation
    • Sub-microscopic structural variants are much harder to detect owing to their small size.
    • The first study in 2004 that used DNA microarrays could detect tens of genetic loci that
    exhibited copy number variation, deletions and duplications, greater than 100 kilobases
    in the human genome.
    • However, by 2015 whole genome sequencing studies could detect around 5,000 of
    structural variants as small as 100 base pairs encompassing approximately 20
    megabases in each individual genome.
    • These structural variants include deletions, tandem duplications, inversions, mobile
    element insertions.
    • The mutation rate is also much higher than microscopic structural variants, estimated
    by two studies at 16% and 20% respectively, both of which are probably
    underestimates due to the challenges of accurately detecting structural variants.
    Copy-number variation

    • Copy-number variation (CNV) is a large category of structural variation, which


    includes insertions, deletions and duplications.
    • In recent studies, copy-number variations are tested on people who do not have
    genetic diseases, using methods that are used for quantitative SNP genotyping.
    • Results show that 28% of the suspected regions in the individuals actually do
    contain copy number variations.
    • Also, CNVs in human genome affect more nucleotides than Single Nucleotide
    Polymorphism (SNP). It is also noteworthy that many of CNVs are not in
    coding regions. Because CNVs are usually caused by unequal recombination,
    widespread similar sequences such as LINEs and SINEs may be a common
    mechanism of CNV creation.
    Inversion
    • There are several inversions known which are related to human disease. For
    instance, recurrent 400kb inversion in factor VIII gene is a common cause
    of haemophilia A, and smaller inversions affecting idunorate 2-sulphatase (IDS)
    will cause Hunter syndrome.
    •  More examples include Angelman syndrome and Sotos syndrome.
    • However, recent research shows that one person can have 56 putative inversions,
    thus the non-disease inversions are more common than previously supposed.
    • Also in this study it's indicated that inversion breakpoints are commonly
    associated with segmental duplications. 
    • One 900 kb inversion in the chromosome is under positive selection and are
    predicted to increase its frequency in European population
    Other structural variants
    • More complex structural variants can occur include a combination of the above in a
    single event.
    •  The most common type of complex structural variation are non-tandem
    duplications, where sequence is duplicated and inserted in inverted or direct
    orientation into another part of the genome.
    •  Other classes of complex structural variant include deletion-inversion-deletions,
    duplication-inversion-duplications, and tandem duplications with nested deletions.
    •  There are also cryptic translocations and segmental uniparental disomy (UPD).
    • There are increasing reports of these variations, but are more difficult to detect than
    traditional variations because these variants are balanced and array-based or PCR-
    based methods are not able to locate them

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