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Human Mutation is a peer-reviewed medical journal of human genetics published by Wiley-Liss on behalf of the Human Genome Variation Society. It first appeared in 1992. The founding editors-in-chief were Haig H. Kazazian and Richard G.H. Cotton. Cotton served until his death in 2015, latterly with Garry R. Cutting, who became sole EIC. [1]
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.
Inactivation mutations will therefore be readily available for selection to act on. Gene loss could thus be a common mechanism of evolutionary adaptation (the "less-is-more" hypothesis). [17] 80 genes were lost in the human lineage after separation from the last common ancestor with the chimpanzee. 36 of those were for olfactory receptors.
This category is for scientific and medical journals covering the fields of human and medical genetics. Pages in category "Medical genetics journals" The following 24 pages are in this category, out of 24 total.
Human genetics is the study of inheritance as it occurs in human beings. Human genetics encompasses a variety of overlapping fields including: classical genetics, cytogenetics, molecular genetics, biochemical genetics, genomics, population genetics, developmental genetics, clinical genetics, and genetic counseling.
In 1966 Muller reviewed these predictions and concluded that the human genome could only contain about 30,000 genes based on the number of deleterious mutations that the species could tolerate. [12] Similar predictions were made by other leading experts in molecular evolution who concluded that the human genome could not contain more than ...
Mutation bias refers to a predictable or systematic difference in rates for different types of mutation.The types are most often defined by the molecular nature of the mutational change, but sometimes they are based on downstream effects, e.g., Ostrow, et al. [1] refer to "mutational bias for body size".
The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course of human evolution. The archeological record of human activity from early periods in human prehistory is relatively limited and its interpretation has been controversial.