Unit 2 - 12. The Human Genome Project & Beyond Flashcards Preview

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Flashcards in Unit 2 - 12. The Human Genome Project & Beyond Deck (15):


- comprehensive study of the genomes



- study of all proteins present in a cell at a given time


6 major Goals of the Human Genome Project

1. To develop a high resolution genetic map of each human chromosome
2. To develop physical maps of each chromosome
3. To determine the nucleotide sequence of the genome
4. To develop improved methods for DNA sequencing of the genome
5. ELSI= to identify and address the major ethical, legal, and social implication of the Human Genome Project
6. To sequence the genomes of other model organisms in order to study gene function and evolutionary relationships


Facts we have learned from the Human Genome Project

- the human genome contains over 3 billion nucleotides and 21,000 genes
- only 1% of the human genome are exons
- many human genes share similarities with other organisms


Genetic map

- shows order and relative distance between genes and genetic markers on a chromosome
- based on inheritance patterns
- uses the unit Centimorgan (cM); 1 cM = 1% chance that recombination will occur


Physical map

- shows order and physical distance between genes and genetic markers, measured in bases, kilobases (kb), or megabases (Mb)



- single nucleotide polymorphism
- a DNA seqeunce variation involving a single nucleotide base



- copy number variations
- a large DNA segment that is found a variable number of times in the genome
- due to gene deletions and duplications


Benefits of the Human Genome project

1. Gene testing - improve diagnosis of disease and detect genetic predispositions to disease
2. Gene therapy - treat patients with genes in which they are deficient
3. Pharmacogenomics
- design custom drugs based on individual genetic profiles


1000 Genomes Project

- a study to sequence the gnomes of at least 1000 people around the world to further refine the human genome map by establishing a detailed catalog of genetic variation (now planning to do this in 25 populations)


Road Map Epigenomics Project

- goal is to identify regions of DNA methylation, histones modifications, chromatin accessibility, and small RNA transcripts associated with normal cells as well as human disease.


Gene Function and Proteomics project

- finding proteins to target in drug development to treat genetic disorders and other diseases


Human Microbiome Project

- identify and characterize microorganisms that are found on/in the human body
- compare/contrast finding in healthy vs. diseased individuals


ENCODE project

= "Encyclopedia of DNA Elements"
- purpose is to identify all functional elements in the human genome


Findings of the ENCODE project

- 80% of genome is functional
-many genes code for RNA (not protein) as the end product
- long noncoding RNAs (lncRNAs) play a role in gene regulation
- 90% of SNPs associated with human disease and other phenotypes fell outside of protein-coding regions