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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 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 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 ...
For different genome types, different mutation types are suitable. Some mutations are Gaussian, Uniform, Zigzag, Scramble, Insertion, Inversion, Swap, and so on. [4] [5] [6] An overview and more operators than those presented below can be found in the introductory book by Eiben and Smith [7] or in. [3] [8]
MSH6 or mutS homolog 6 is a gene that codes for DNA mismatch repair protein Msh6 in the budding yeast Saccharomyces cerevisiae.It is the homologue of the human "G/T binding protein," (GTBP) also called p160 or hMSH6 (human MSH6).
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.
A nucleotide substitution at a 4-fold degenerate site is always a synonymous mutation with no change on the amino acid. [2]: 521–522 A less degenerate site would produce a nonsynonymous mutation on some of the substitutions. An example (and the only) 3-fold degenerate site is the third position of an isoleucine codon.
[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]