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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.
In genetics, a chromosomal rearrangement is a mutation that is a type of chromosome abnormality involving a change in the structure of the native chromosome. [1] Such changes may involve several different classes of events, like deletions , duplications , inversions , and translocations .
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 ...
Five types of chromosomal mutations Types of small-scale mutations. The sequence of a gene can be altered in a number of ways. [48] Gene mutations have varying effects on health depending on where they occur and whether they alter the function of essential proteins. Mutations in the structure of genes can be classified into several types.
The first fusion gene [1] was described in cancer cells in the early 1980s. The finding was based on the discovery in 1960 by Peter Nowell and David Hungerford in Philadelphia of a small abnormal marker chromosome in patients with chronic myeloid leukemia—the first consistent chromosome abnormality detected in a human malignancy, later designated the Philadelphia chromosome. [3]
Chromosomal reciprocal translocation of the 4th and 20th chromosome. In genetics , chromosome translocation is a phenomenon that results in unusual rearrangement of chromosomes. This includes balanced and unbalanced translocation, with two main types: reciprocal , and Robertsonian translocation.
Cystic fibrosis is caused by mutations in a gene known as the cystic fibrosis transmembrane conductance regulator (CFTR), says Basavaraj. He explains that these mutations eventually cause a ...
These repeated sequences could cause deletions, duplications, inversions, and inverted duplication chromosomes. The products of this mechanism from the sequence repeats is depicted in Figure 2. A study was done on the olfactory receptor gene clusters where they questioned if there was an association between normal rearrangement of 8p and the ...