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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]
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.
Victor Frank and his wife Marsha, unable to have a second child due to Marsha's infertility, turn to surrogacy as an alternate method of conception. Victor, an obstetrician-gynaecologist and owner of the biochemical company Chimera Inc., injects the egg implanted in his wife with an agent called Nerve Growth Factor (NGF) into chromosome six, which causes the baby to grow more neurons than ...
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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.
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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.
It can also be biased by violation of the infinite-sites mutational model; if multiple mutations can overwrite one another, Watterson's estimator will be biased downward. Comparing the value of the Watterson's estimator, to nucleotide diversity is the basis of Tajima's D which allows inference of the evolutionary regime of a given locus.