Exam 15: Genomes and Genomics
Explain why annotation is an important step in genomic sequencing projects,in the context of the percentage of the human genome composed of coding regions.
Although the human genome is large and contains over 3 billion nucleotides of DNA,only about 2% of the genome contains protein-coding sequences,and only about 1.1% of the genome is composed of exons,the nucleotides that actually specify the amino acids in a protein.Looking at a DNA sequence,it is not obvious whether or not it contains genes.If the sequence does contain one or more genes,it isn't clear where they begin and end.Once a genome sequence has been compiled,it is analyzed to find all the genes that encode proteins and RNA.This process is called annotation (the analysis of genomic nucleotide sequence data to identify the protein-coding genes,the nonprotein-coding genes,their regulatory sequences,and their functions).
Explain how breast cancer diagnosis and treatment has benefited from proteomics and genomic analyses.
Proteomics and gene expression profiles provide information for the diagnosis and treatment of disease and are becoming a routine part of medical care.Genomic and genetic analyses have shown that breast cancer is not a single disease,but rather,a collection of diseases that share the same place in the body.Four different subtypes of breast cancer have been identified,each with distinct rates of progress and responses to therapy.Proteomic analysis has shown that each subtype has a characteristic protein signature.These proteins are biomarkers that are now used for diagnosis and the design of the most effective therapies for each subtype.
What was the primary goal of the Human Genome Project?
C
Distances between linked genes in centimorgans (cM)can be converted directly to the physical distances between them on the chromosome.
A method used to link genetic markers with specific genes on chromosomes is called ____________________.
One finding of the Human Genome Project was that mutations in _____ can cause mutations in distant regions of the genome,which can result in cancer.
After completion of a genome sequencing project,the DNA sequences are analyzed to locate and identify genes in a process called _____.
How is the field of bioinformatics indispensable for genomic research?
Direct-to-consumer genetic testing is available from several companies.
The field of ____________________ involves the identification of disease biomarkers and protein targets for drug development.
If two genes have a lod score of 1.2,this indicates that they are most likely_____.
Since the whole genome sequencing method eliminates the need for constructing physical and genetic maps,this method is _____.
Discuss how the Human Microbiome Project will impact our understanding of human disease.
Repeating DNA regions of at least 1000 base pairs known as ____________________ can affect gene expression.
The number of proteins produced by the human genome is significantly less than the number of genes it contains.
Genes on the same chromosome are said to show ____________________.
Genetic maps are constructed by estimating the distances between linked genes based on the calculation of ____________________.
Discuss three issues associated with the Human Genome Project and genetic testing that might have either ethical,legal,or social implications in the future.
A set of SNPs close together on a chromosome is called a(n)____________________.
Discuss the relationship between genetic distance and physical distance between two linked genes.
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