Describe three major goals of the Human Genome Project.

Describe the human genome in terms of genome size, the percentage of the genome that codes for proteins, how much is composed of repetitive sequences, and how many genes it contains. Describe two other features of the human genome.

The Human Genome Project has demonstrated that in humans of all races and nationalities approximately 99.9 percent of the genome sequence is the same, yet different individuals can be identified by DNA fingerprinting techniques. What is one primary variation in the human genome that can be used to distinguish different individuals? Briefly explain your answer.

Through the Human Genome Project (HGP), a relatively accurate human genome sequence was published from combined samples from multiple individuals. It serves as a reference for a haploid genome. How do results from personal genome projects (PGP) differ from those of the HGP?

Explain differences between whole-genome sequencing (WGS) and whole-exome sequencing (WES), and describe advantages and disadvantages of each approach for identifying disease-causing mutations in a genome. Which approach was used for the Human Genome Project?

Mitochondrial replacement therapy (MRT) offers a potential solution for women with mtDNA-based diseases to have healthy children. Based on what you know about the importance of nuclear gene products to mitochondrial functions, will MRT ensure that children will not inherit or develop a mtDNA-based diseases?

Consider ethical issues associated with creating a synthetic human genome. Are there specific applications for a synthetic human genome that you support? Is creating a synthetic genome enhanced with genes for certain kinds of traits one of those applications?

Describe the significance of the Genome 10K project.

What is the difference between a knockout animal and a transgenic animal?

One complication of making a transgenic animal is that the transgene may integrate at random into the coding region, or the regulatory region, of an endogenous gene. What might be the consequences of such random integrations? How might this complicate genetic analysis of the transgene?

When disrupting a mouse gene by knockout, why is it desirable to breed mice until offspring homozygous (−/−) for the knockout target gene are obtained?

A number of mouse models for human cystic fibrosis (CF) exist. Each of these mouse strains is transgenic and bears a different specific CFTR gene mutation. The mutations are the same as those seen in several varieties of human CF. These transgenic CF mice are being used to study the range of different phenotypes that characterize CF in humans. They are also used as models to test potential CF drugs. Unfortunately, most transgenic mouse CF strains do not show one of the most characteristic symptoms of human CF, that of lung congestion. Can you think of a reason why mouse CF strains do not display this symptom of human CF?

What techniques can scientists use to determine if a particular transgene has been integrated into the genome of an organism?

Craig Venter and others have constructed synthetic copies of viral genomes. For example, the genome for poliovirus and the 1918 influenza strain responsible for the pandemic flu have been assembled this way. The United States currently has a moratorium on federal funding for 'gain-of-function' experiments which increase the virulence or transmission potential of viruses. What concerns might ethicists have about synthetic biology studies involving potential pandemic pathogens?

Gene targeting and gene editing are both techniques for removing or modifying a particular gene, each of which can produce the same ultimate goal. What is the main technical difference in how DNA is modified that differs between these approaches?