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Mutation frequencies test are cost effective in laboratories [1] however; these two concepts provide vital information in reference to accounting for the emergence of mutations on any given germ line. [2] [3] There are several test utilized in measuring the chances of mutation frequency and rates occurring in a particular gene pool.
The human germline mutation rate is approximately 0.5×10 −9 per basepair per year. [1] In genetics, the mutation rate is the frequency of new mutations in a single gene, nucleotide sequence, or organism over time. [2] Mutation rates are not constant and are not limited to a single type of mutation; there are many different types of mutations.
[21] [22] Allele frequencies of H63D in ethnically diverse western European populations are 10-29%. [23] and in North American non-Hispanic whites are 14-15%. [24] At least 42 mutations involving HFE introns and exons have been discovered, most of them in persons with hemochromatosis or their family members. [25] Most of these mutations are rare.
The focus is to explore the relationship between non-synonymous mutations (SNPs, indels, or CNVs) and their functional impact on known genes. [10] Especially, gene-based annotation will highlight the exact amino acid change if the mutation is in the exonic region and the predicted effect on the function of the known gene.
The shiverer mutation is an autosomal recessive loss-of-function mutation. It was generated by a 20-kilobase deletion within the MBP gene, [1] resulting in the failure of oligodendrocytes to form compact myelin in the central nervous system. Axons in shiverer mice fail to attain a normal diameter and exhibit altered cytoskeleton structure. [2]
A comparison of a mouse unable to produce leptin thus resulting in obesity (left) and a normal mouse (right) The ob/ob or obese mouse is a mutant mouse that eats excessively due to mutations in the gene responsible for the production of leptin and becomes profoundly obese. It is an animal model of type II diabetes.
The conditional stabilizing mutation in the beta-catenin gene caused formation of up to 3000 polyps in the small intestine of this mouse model. A mouse model carrying mutations in Apc Δ716 and Smad4 (mothers against decapentaplegic homolog 4) is characterized with development of invasive adenocarcinomas. [13]
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