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β-Glucocerebrosidase (also called acid β-glucosidase, D-glucosyl-N-acylsphingosine glucohydrolase, or GCase) is an enzyme with glucosylceramidase activity (EC 3.2.1.45) that cleaves by hydrolysis the β-glycosidic linkage of the chemical glucocerebroside, an intermediate in glycolipid metabolism that is abundant in cell membranes ...
The 96 mutation types concept from Alexandrov et al. [4] Considering the 5' flanking base (A, C, G, T), the 6 substitution classes (C>A, C>G, C>T, T>A, T>C, T>G) and 3' flanking base (A, C, G, T) leads to a 96 mutation types classification (4 x 6 x 4 = 96). The 16 possible mutation types of the substitution class C>A are shown as an example ...
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.
Segregating sites include conservative, semi-conservative and non-conservative mutations. The proportion of segregating sites within a gene is an important statistic in population genetics since it can be used to estimate mutation rate assuming no selection. For example it is used to calculate the Tajima's D neutral evolution statistic.
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[4] [16] This is followed by a PCR without primers. [14] In the PCR, DNA fragments with sufficiently overlapping sequences will anneal to each other and then be extended by DNA polymerase. [1] [4] [5] [7] [14] [16] [21] The PCR extension will not occur unless there are DNA sequences of high similarity. [1]
Nevertheless, the concept is still widely used in evolutionary genetics, e.g. to explain the persistence of deleterious alleles as in the case of spinal muscular atrophy, [5] [4] or, in theoretical models, mutation-selection balance can appear in a variety of ways and has even been applied to beneficial mutations (i.e. balance between selective ...
Under this model, cancer arises as the result of a single, isolated event, rather than the slow accumulation of multiple mutations. [4] The exact function of some tumor suppressor genes is not currently known (e.g. MEN1, WT1), [5] but based on these genes following the Knudson "two-hit" hypothesis, they are strongly presumed to be suppressor genes.