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Chapter 19: Problem 7

Sequencing the human genome and the development of microarray technology promise to improve our understanding of normal and abnormal cell behavior. How are microarrays dramatically changing our understanding of complex diseases such as cancer?

Short Answer

Expert verified
Microarrays have contributed significantly to our understanding of complex diseases like cancer by allowing researchers to analyze gene expression levels in various biological samples simultaneously. This has led to the identification of disease-related genes, the discovery of molecular signatures specific to different cancer subtypes, and a better understanding of the molecular mechanisms driving cancer progression. This knowledge has been instrumental in improving diagnostic accuracy, predicting disease progression, and tailoring personalized treatment plans for individual patients.

Step by step solution

01

Introduction to Sequencing the Human Genome and Microarray Technology

Sequencing the human genome was a major milestone in understanding human genetics and the function of genes. The process has provided us with crucial information about the structure, organization, and function of the human genome, which in turn, helped us better understand various diseases. The development of microarray technology is one of the important outcomes of genome sequencing. Microarrays play an important role in unraveling the molecular mechanisms of complex diseases like cancer.
02

Understanding Microarray Technology

Microarray technology is a high-throughput method used to analyze gene expression levels in various biological samples. A microarray is a collection of tiny spots containing DNA molecules attached to a solid surface, like a glass slide. Each DNA spot represents a unique gene, allowing simultaneous measurement of thousands of genes in a single experiment. Researchers can use the microarray to compare gene expression levels between healthy and diseased cells, helping to identify disease-related genes and their functions.
03

Microarrays and the Study of Complex Diseases

Microarray technology has been particularly useful in studying complex diseases such as cancer. Cancer is caused by mutations in genes that result in uncontrolled cell growth and division. Understanding the gene expression changes in cancer cells compared to normal cells can provide insights into the molecular mechanisms driving cancer progression and help identify potential targets for drug development.
04

Specific Examples of Microarray Contributions to Cancer Research

Microarray studies of various cancers have led to the discovery of disease-specific gene expression patterns, known as "molecular signatures." These signatures can be used for more accurate diagnosis, prediction of disease progression, and response to therapy. For example, microarray analysis of breast cancer has led to the classification of different subtypes, each with its unique molecular signature. This classification has been instrumental in choosing the appropriate treatment for individual patients and has resulted in more personalized medicine.
05

Conclusion

Overall, microarrays have dramatically changed our understanding of complex diseases, such as cancer. By allowing us to profile thousands of genes simultaneously, microarrays have significantly advanced the field of genomics and paved the way for the development of personalized medicine. The technology continues to contribute to our knowledge of disease mechanisms, ultimately helping develop more effective and targeted therapies.

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Most popular questions from this chapter

What are the different genetic markers that genome-wide association studies (GWAS) employ? How can scientists use this data to calculate the disease risk associated with each variation?

The first attempts at gene therapy began in 1990 with the treatment of a young girl with a genetic disorder abbreviated SCID. What does SCID stand for? In the context of SCID, what does ADA stand for?

In this chapter, we focused on a number of interesting applications of genetic engineering, genomics, and biotechnology. At the same time, we found many opportunities to consider the methods and reasoning by which much of this information was acquired. From the explanations given in the chapter, what answers would you propose to the following fundamental questions: (a) What experimental evidence confirms that we have introduced a useful gene into a transgenic organism and that it performs as we anticipate? (b) How can we use DNA analysis to determine that a human fetus has sickle- cell anemia? (c) How can DNA microarray analysis be used to identify specific genes that are being expressed in a specific tissue? (d) How are GWAS carried out, and what information do they provide? (e) What are some of the technical reasons why gene therapy is difficult to carry out effectively?

Dominant mutations can be categorized according to whether they increase or decrease the overall activity of a gene or gene product. Although a loss-of- function mutation (a mutation that inactivates the gene product) is usually recessive, for some genes, one dose of the normal gene product, encoded by the normal allele, is not sufficient to produce a normal phenotype. In this case, a loss-of-function mutation in the gene will be dominant, and the gene is said to be haploinsufficient. A second category of dominant mutation is the gain-of- function mutation, which results in a new activity or increased activity or expression of a gene or gene product. The gene therapy technique currently used in clinical trials involves the "addition" to somatic cells of a normal copy of a gene. In other words, a normal copy of the gene is inserted into the genome of the mutant somatic cell, but the mutated copy of the gene is not removed or replaced. Will this strategy work for either of the two aforementioned types of dominant mutations?

An unapproved form of gene therapy, known as enhancement gene therapy, can create considerable ethical dilemmas. Why?
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