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They can cause linkage disequilibrium between a sex-determining mutation and sex-antagonistic loci and create a new sex chromosome from an autosome. [17] Inversions can be involved in speciation in multiple ways. Since heterozygote inversions can be underdominant, they can cause hybrid fitness loss, resulting in post-zygotic isolation. They can ...
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
The three major single-chromosome mutations: deletion (1), duplication (2) and inversion (3). The two major two-chromosome mutations: insertion (1) and translocation (2). When the chromosome's structure is altered, this can take several forms: [16] Deletions: A portion of the chromosome is missing or has been deleted.
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 ...
When the genetic disorder is inherited from one or both parents, it is also classified as a hereditary disease. Some disorders are caused by a mutation on the X chromosome and have X-linked inheritance. Very few disorders are inherited on the Y chromosome or mitochondrial DNA (due to their size). [3]
Consequently, the underlying pathology of diseases caused by nonsense mutations is ultimately dependent on the identity of the mutated gene, and specific location of the mutation. Examples of diseases induced by nonsense mutations include: Cystic fibrosis (caused by the G542X mutation in the cystic fibrosis transmembrane conductance regulator ...
A variety of mutations in the TYMP gene have been discovered that lead to the onset of mitochondrial neurogastrointestinal encephalopathy syndrome. [2] The TYMP gene is a nuclear gene, however, mutations in the TYMP gene affect mitochrondrial DNA and function. [2] Mutations in this gene result in a loss of thymidine phosphorylase activity. [2]
ALGS is caused by loss of function mutations in either JAG1 (Jagged1) or NOTCH2 (Notch homolog 2). [14] [15] In the majority of people with ALGS, the gene mutation occurs in the JAG1 gene. The JAG1 mutation is either intragenic and found on chromosome 20p12, or it is a deletion of the entire JAG1 gene. [16]