Unit 1 Chapter 4/5 Flashcards
the name given to mutations that involve an alteration of a DNA nucleotide sequence
Single Gene Mutation
condition caused by a frameshift mutation
Tay-Sachs Syndrome and Cystic Fibrosis
what happens if no protein is produced or a faulty protein is expressed
Mutation
the protein whose components are protein and carbohydrate
Glycoproteins
the type of substitution mutation where the altered codon codes for an amino acid that still makes sense but not the original sense.
Missense
the three types of chromosome mutations
Deletion, Duplication and Translocation
the units from which proteins are built and of which there are about 20 different types
Amino Acids
the three types of point mutation
Substitution, Insertion, Deletion
the type of bonds that hold amino acids together
Peptide
the name given to sites on the introns where splicing takes place and where mutations can occur resulting in introns being retained
Splice sites
the type of mutation where a repeat of a nucleotide sequence occurs
Nucleotide Sequence Repeat Expansion
the name given to agents like X-rays and gamma rays that can increase mutation rate
Mutagenic Agents
the type of substitution mutation where a stop codon replaces another codon forming a shorter than normal polypeptide that is unable to function
Nonsense
the name given to mutations that involve a change in one DNA nucleotide
Point Mutation
the name given to an individual who is affected by a mutation
Mutant
the process of post-transcriptional processing of mRNA where introns are removed and exons joined together
Splicing
the term used to describe the study of the human genome where the sequence of bases along the DNA is determined
Human Genomics
the term used to describe altered genetic sequences that have no negative effect
Neutral
the study of the effects(therapeutic, neutral or adverse) of pharmaceutical drugs on the genetically diverse members of the human population
Pharmacogenetics
the possible advantages of personal genomic sequencing being used widely in the future
to assess predisposition to a disease, predict risk and reduce risk through drug treatment and lifestyle changes
the theory that proposes that humans originated in Africa and underwent early evolutionary divergence in that continent over a very long period of time
‘Out-of-Africa’ Theory
the types of gene sequences that can be searched for using bioinformatics
Protein-Coding Sequences, Start Sequences and Stop Codons
the factors that most medical disorders depend on for their expression
Genetic and Environmental Factors
the name given to the fusion of molecular biology, statistical analysis and computer technology
Bioinformatics
the name given to the complete sequencing of a person’s DNA bases
Personal Genome Sequence
the technique used to create many copies of a piece of DNA in vitro
Polymerase Chain Reaction (PCR)
the study of a group of living things with respect to their diversity, relatedness and classification
Systematics
the enzymes obtained from a bacterium native to hot springs that adds nucleotides to the primers at the 3’ end of the original DNA strands.
Heat-Tolerant TAQ DNA Polymerase
a short, single-stranded fragment of DNA used to detect the presence of a specific sequence of nucleotide bases in a sample of DNA
DNA Probe
the variation in DNA sequence that affects a single base pair in a DNA chain
Single Nucleotide Polymorphism(SNP)
