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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 (particularly skin cells). [5]
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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. There are over 6,000 known genetic disorders in humans.
The mutation might then have been "reintroduced by recurrent gene flow from Ashkenazi populations to other Jewish, European, and North African populations. The present-day frequency of the mutation in control populations (0.05% in Europeans, 0.5% in North-African Arabs and 1% in Ashkenazi Jews) may support this scenario".) [43] [44]
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 ...
[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]
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.
There are several methods, or forms, of mutation that exist including spontaneous mutation, errors during replication and repair, as well as mutation due to environmental effects. [8] These origins of mutations can cause many different types of mutations which influence gene expression on both large and small scales.