Unit_9 Cell Differentiation, Mutations, and DNA Technologies

Comprehensive vocabulary flashcards covering cell differentiation, types of genetic and chromosomal mutations, associated diseases, and molecular DNA technologies.

Stem cells

Cells with no assigned role that have the potential to become any type of cell in the body.

Cell Differentiation

The process occurring around $9$ weeks gestation in humans where specific genes are expressed to produce proteins, resulting in more specific types of cells.

Cell Specialization

The process of a cell becoming its final restricted cell type by turning the cells genes on or off.

External Factors affecting gene expression

Environmental variables including temperature, pH, salinity, chemicals/toxins, radiation, diet, and light.

Internal Factors affecting gene expression

Internal chemical signals such as hormones.

Mutation

A change in the sequence of base pairs that can be harmful, helpful, or neutral, often caused by errors in DNA replication, chemicals, or radiation.

Point Mutation

A gene mutation resulting from a change in a single base within a single gene.

Substitution Mutation

A type of mutation where one base replaces another; if the codon still codes for sets of three nitrogen bases, it is a substitution.

Silent Mutation

A substitution mutation where the same amino acid is translated despite the base change, resulting in no change to the organism.

Missense Mutation

A substitution mutation which results in a different amino acid, altering the function of the protein.

Nonsense Mutation

A substitution mutation which produces a stop codon and alters the function of the protein.

Insertion Mutation

A mutation occurring when an extra nitrogen base is added, shifting the frame of every codon after the addition.

Deletion Mutation (Gene)

A mutation occurring when a nitrogen base is removed, shifting the frame and causing many codons to be incorrect after the deletion.

Achondroplasia

A condition resulting from a missense mutation characterized by improper development of cartilage on the ends of bones, resulting in a form of dwarfism.

Muscular Dystrophy

A progressive muscle disorder characterized by the progressive weakening of many muscles, associated with nonsense mutations.

Cystic Fibrosis

A disease characterized by abnormally thick mucus in the lungs, intestines, and pancreas, associated with deletion mutations.

Crohn's Disease

Chronic inflammation of the intestinal tract causing diarrhea and abdominal pain, associated with insertion mutations.

Charcot-Marie-Tooth disease (type 1A)

Damage to peripheral nerves leading to muscle weakness and atrophy, associated with duplication mutations.

Huntington's Disease

A progressive disease caused by expanding mutations (tandem repeats) where brain cells waste away.

Chromosomal Mutations

Mutations affecting a part of a chromosome in gamete cells, rather than just a few nitrogen bases.

Duplication (Chromosomal)

A chromosomal mutation resulting in an extra chromosome.

Deletion (Chromosomal)

A chromosomal mutation resulting in a missing chromosome.

Inversion

A chromosomal mutation where the location of a chromosome segment is reversed.

Translocation

A chromosomal mutation where a piece of one chromosome breaks off and joins another chromosome.

Down Syndrome

A condition that is the result of an insertion mutation involving an extra chromosome.

Polymerase Chain Reaction (PCR)

A molecular technology that amplifies or makes more small pieces of DNA for analysis.

Gel Electrophoresis

A process that uses an electrical charge to separate DNA segments for comparison.

Genetic Engineering

The use of molecular technologies to alter DNA, such as creating genetically modified organisms or performing gene therapy.

Recombinant DNA

DNA created by combining genetic information from different sources, such as producing human insulin from bacteria or yeast.

CRISPR

A DNA technology used to locate and edit specific genes.