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An inversion is a chromosome rearrangement in which a segment of a chromosome becomes inverted within its original position. An inversion occurs when a chromosome undergoes a two breaks within the chromosomal arm, and the segment between the two breaks inserts itself in the opposite direction in the same chromosome arm.
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, [14] and smaller inversions affecting idunorate 2-sulphatase (IDS) will cause Hunter syndrome. [15] More examples include Angelman syndrome and Sotos syndrome. However, recent ...
This is the case in hereditary diseases. In particular, if there is a mutation in a DNA repair gene within a germ cell, humans carrying such germline mutations may have an increased risk of cancer. A list of 34 such germline mutations is given in the article DNA repair-deficiency disorder.
Such changes may involve several different classes of events, like deletions, duplications, inversions, and translocations. Usually, these events are caused by a breakage in the DNA double helices at two different locations, followed by a rejoining of the broken ends to produce a new chromosomal arrangement of genes , different from the gene ...
Position-effect variegation (PEV) is a variegation caused by the silencing of a gene in some cells through its abnormal juxtaposition with heterochromatin via rearrangement or transposition. [1] It is also associated with changes in chromatin conformation .
A karyotype of an individual with trisomy 21, showing three copies of chromosome 21.. An abnormal number of chromosomes is known as aneuploidy, and occurs when an individual is either missing a chromosome from a pair (resulting in monosomy) or has more than two chromosomes of a pair (trisomy, tetrasomy, etc.).
Immigration advocacy groups and Democratic leaders are seeking to disrupt President-elect Donald Trump's plan to deport millions of undocumented immigrants by pre-drafting lawsuits that could be ...
Fold-back inversions are chimeric sequences that span head-to-head arrangements of inverted tandem-duplicated segments, and are expected to appear in BFB modified genomes. In addition, BFB induces amplification of segments of the original genome, where the number of repeats of each segment in the rearranged genome can be experimentally measured .