To analyze:
The aim of GWAS (Genome wide association studies) is to locate chromosome regions containing the genes influencing the risk of disease, when applied to the study of the human genome. Unique articular genes can be identified in these regions; especially mutant alleles that intensify disease risk are to be sequenced. So far, the recognition of these alleles occasionally led to a new therapeutic strategy, but more frequently the identification of disease alleles is the only outcome.
a. From a physician’s perspective, describe the importance of identification of these alleles that increase the risk of a specific disease.
b. Explain the importance of identifying alleles that increase disease risk for a person who is currently free of the disease but what about the persons having pre-disposal of this disease that is running in the family.
c. Describe the personal or ethical issues occured from GWAS, might be of concern to physicians or to those who may carry an allele that increases the risk of disease.
Introduction:
GWAS is designed for the detection and location of the genes that influence the appearance of the trait by multiple genes. These multiple genes responsible for a particular trait are dispersed throughout the genome. Hence, the GWAS helps to locate the particular gene in the genome.
GWAS does not create any gene map of a chromosome rather it finds the association of traits and the groups of alleles to locate these influencing genes on different chromosomes.
In the GWAS, the term association refers to the trait co-occurs with group of alleles more often than expected.
The GWAS connects the presence of DNA marker having sequence variation with quantitative trait loci (QTL) affecting the particular
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Chapter 21 Solutions
Genetic Analysis: An Integrated Approach (2nd Edition)
- Increasingly, whole-genome sequencing of individuals is being done to help identify and treat medical conditions. Genome sequencing invariably identifies a number of variations, some common and some rare, that might be clinically relevant. For example, suppose a person had their genome sequenced to help determine their risk for cardiovascular disease and, just by chance, the sequence revealed that they carry one or more variants that predispose them to cancer or Alzheimer disease. Does the sequencing laboratory or physician have an obligation to report this finding, which was not the purpose of the sequencing and which the patient did not request? What about reporting variants for which no or limited information can be provided about their clinical significance? Does the answer to this question differ for sequencing done on children?arrow_forwardList three clinical indications for chromosome and/or genome analysis and why the process might be important for each indication.arrow_forwardPlease explain in detailarrow_forward
- a. Briefly discuss (using three sentences) how the concepts and/or techniques in molecular biology are applied in COVID-19 pandemic, and: b. For each topic (Covid-19 pandemic), give any issues, benefits, or drawbacks of the application (still using three sentences).arrow_forwardList three conditions for which gene therapy trials have been performed for, and suggest reasons for their successarrow_forwardExplain how site directed mutagenesis can be accomplished using M13 bacteriophage. Using this method often results in only 5% of plaques with mutant gene. Explain how the procedure has been modified to enrich for the number of plaques with the mutant gene.arrow_forward
- Give a schematic diagram of how we can Treatment Down Syndrome by using gene therapy? Please answer at your own words,please..arrow_forwardGenes with highly similar sequence are often located adjacent one another in the genome. Gene duplication commonly arises from errors in replication. When the organization of such adjacent genes is in an inverted orientation, this can reduce the expression of other genes that have similar sequence and are located on other chromosomes. Explain the mechanism of how this generally occurs. Please state the answer in details: what is the mechanism? How it happens? Why this happens? When it happens? And every other necessary information.arrow_forwardDescribe three possible uses of site-directed mutagenesis.arrow_forward
- Give a schematic diagram of how we can Treatment Down's syndrome by using gene therapy? Please answer at your own words,please..arrow_forwardThe MET oncogene is a growth factor receptor that is altered in many forms of cancer including lung and colon carcinomas as well as several forms of melanoma. One assay for characterizing the gene composition of tumor cells is Fluorescence in situ Hybridization (FISH) in which a fluorescently labeled DNA is used to show the presence of and level (i.e. number copies) of a gene inside cells. The experiment below is a FISH assay of two different tumor samples (Patient D and Patient E) using a MET gene probe labeled with a green fluorescent probe. The figure on the right presents the survival data from diagnosis of cancer patients with FISH data similar to Patient D or E. Based on this data, what has happened to the MET gene in Patient D population that has made their cancer more severe and reduced survival time (Limit 4-5 sentences). D Survival rate (%) 100 0 0 100 200 Time (days) 300 Earrow_forward1) What are the limitations of targeted versus whole-genome or whole-exome profiling of cancer mutations? 2) What can you infer about mutations that are common to almost all of the cells in a tumor? 3) Summarize the high-level differences between the VCF and MAF file formats. 4) How do germline and somatic mutations differ in terms of their effect on cancer risk and prognosis?arrow_forward
Human Heredity: Principles and Issues (MindTap Co...BiologyISBN:9781305251052Author:Michael CummingsPublisher:Cengage Learning