CHAPTER 2 - part 2 Flashcards
Refers to any change in the nucleotide sequence as a result of a failure of the system to revert the change.
Mutation
Causes of mutations:
Insertion, deletion, exchanges of nucleotides
A type of changes in the DNA that occurs in reproductive cells
Germ-line mutations
A type of changes in the DNA that occur in non-reproductive cells
Somatic mutations
An eye cancer that begins in the retina - the sensitive lining on the inside of your eye
Retinoblastoma
Classes of mutations:
Point mutation, Chromosomal Mutation, Copy number variation
Types of mutation under Point Mutation
Substitution, Insertion, Deletion
One base is incorrectly added during replication
Substitution
Example of substitution
Sickle-cell anemia
One or more nucleotides are inserted into replacing DNA
Insertion
One or more nucleotides is skipped during replication
Deletion
Example of insertion and deletion respectively
One form of beta-thalassemia, Cystic fibrosis
Types of mutation under chromosomal mutatiom
Inversion, Deletion, Duplication, Translocation
One region of a chromosome is flipped and reinserted
Inversion
A region of chromosome is lost
Deletion
A region of chromosome is repeated
Duplication
A region from one chromosome is aberrantly attached to another chromosome.
Translocation
Example of inversion
Opitz-Kaveggia syndrome
Example of deletion
Cri du chat syndrome
Example of duplication
Some cancers
Example of translocation
One form of leukemia
Type of mutation under copy number variation
Gene amplification, Expanding trinucleotide repeat
The number of tandem copies of a locus is increased
Gene amplification
The normal number of repeated trinucleotide sequences is expandaed
Expanding trinucleotide repeat
Example of gene amplification
Some breast cancer
Expanding trinucleotide repeat
Fragile X syndrome, Huntington’s disease
a large, wellorganized, and highly collaborative
international effort that generated the first
sequence of the human genome and that of
several additional well-studied organisms.
Human genome project
the project used one particular method for
DNA sequencing, called _________ _____ ___________, but first greatly advanced this
basic method through a series of major
technical innovations
Sanger DNA sequencing
Scientific goals of the US Human Genome Project
- Mapping and Sequencing the Human Genome
- Model organisms
3.Informatics: Data Collection and Analysis - Ethical, Legal, and Social Considerations
- Research Training
- Technology development
- Technology transfer
