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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.
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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.
After Benzer demonstrated the power of the T4 rII system for exploring the fine structure of the gene, others adapted the system to explore related problems.For example, Francis Crick and others used one of the peculiar r mutants Benzer had found (a deletion that fused the A and B cistrons of rII) to demonstrate the triplet nature of the genetic code.
The Journey of Man: A Genetic Odyssey is a 2002 book by Spencer Wells, an American geneticist and anthropologist, in which he uses techniques and theories of genetics and evolutionary biology to trace the geographical dispersal of early human migrations out of Africa. The book was made into a TV documentary in 2003.
Point mutations result in single nucleotide changes whereas insertions and deletions result in the addition or removal of nucleotides, respectively. [ 1 ] [ 2 ] DNA shuffling enables the recombination of parent genes which dramatically increases the rate of directed evolution. [ 3 ]