Mutation rate

Smukowski et al. (2011) also suggested that there is a heterogeneity in recombination rate across genome and between species, so to get a valid analysis of linked selection, the difference in recombination rate should be accounted for. Begun and Aquadro (1992) showed that the silent site diversity scale positively with recombination rate in Drosophila and this is interpreted as the effect of episodic positive selection. Further, Corbett-Detig et. al (2015) showed…

Daniel Huang Chapter 9 1. Mutations can be very negative in that it can cause cancer in somatic cells. However it is important to note that mutations will also lead to variability which is beneficial to us. Mutations in intergenic DNA affects regulations of protein products which is actually less detrimental than mutations in exons which code for the proteins. 2. Transition is the error that causes the base to change from a purine to purine or pyrimidine to pyrimidine. Transverses are base…

Genetics Testing Introduction to Genetic Testing Genetic testing, also known as DNA testing, is the process of using medical tests used to look at one’s genes, inherited from one’s parents. These tests ranges from identifying a child’s biological parents, to ascertaining if there are any risks of having cancer or diseases. Results of genetic testing may help access on how severe a disease might be and find the best solution to diagnose it. It will also help determine the chances of developing…

Mutations in the DMD gene, which creates dystrophin, causes Muscular dystrophy. Dystrophin is located in the skeletal and and cardiac muscles. Alterations or mutations in the gene make it so little to know dystrophin are produced, causing Muscular Dystrophy. Without enough dystrophin muscles contract and get damaged. (2015) The mutated gene can be inherited in an X-linked pattern. This means it is passed along the X chromosome. If a mother has a faulty DMD gene, her son has a fifty percent…

1. In your own words, define what is a mutation? Abnormal inherited or acquired permeant alteration in the sequences of the nucleotides of the deoxyribonucleic acid of an organism may or may not change organism phenotype, it occurs with a frequency of less than1% among a population. 2. Are mutations bad or good for you? Justify your answer in either case Mutations could be good, bad, or may have little or no effect. Beneficial mutations: Some mutations if they happen they have a positive…

Pompe disease is an autosomal recessive disorder caused by partial or complete deficiency of acid alpha-glucosidase (GAA), an enzyme involved in the breakdown of glycogen into simple sugars. Mutations in the gene coding for GAA, prevent enzymatic activity of α-glucosidase, which results in toxic build up of polysaccharide inside lysosomes, and leads to damage and debilitation of organs and tissues, primarily skeletal and cardiac muscles. Individuals with both copies of the altered gene are…

644). Autosomal recessive disorder is defined as a mutation of two gene pairs on a chromosome and if the patient inherits only one copy of the allele, the disease will not develop but rather the child will be a carrier (Lewis et al., 2014, p. 193). Males and females are affected equally and heterozygotes…

The rates are about 1 in every 1,250 births. Normal adults have 46 chromosomes. However, in the case, the person has 47 chromosomes as a third chromosome is attached to the chromosome #21. Now there are 3 chromosomes where they should only be two (to make a…

The mechanisms of evolution are mutation, gene flow, genetic drift and natural selection. These mechanisms are based upon the changes that occur within an organism’s gene pool and how they affect those organisms and their survivability. Some of these mechanisms of evolution move quickly and affect large populations while others are slow moving and affect small populations. Not all of the evolutionary mechanisms are positive and benefit the population’s long term survival. Commonly these negative…

2016). Smoking tobacco and exposure to other carcinogens increases human risk for cancer significantly by enhancing DNA mutation rates. Different carcinogens cause slightly different types of DNA damage in humans that eventually lead to cancer (Ehrenberg, 2016). These unique patterns of mutations that occur in different types of cancer tissue are what makes each carcinogenic mutation unique and leave behind their own mutational signature on the cancer genome. These signatures can be used as a…