Topic 2 (Ch. 2) Flashcards
(49 cards)
Chromosomes
Threadlike structures made up of deoxyribonucleic acid (DNA).
DNA
A complex molecule that has a double helix shape, like a spiral staircase and contains genetic information.
Genes
The units of hereditary information, are short segments of DNA. They help cells to reproduce themselves and to assemble proteins.
Each gene has its own location—its own designated place on a particular chromosome.
Proteins
The building blocks of cells as well as the regulators that direct the body’s processes.
genome-wide association method
method to identify genetic variations linked to a particular disease
Linkage analysis
Method to discover the location of a gene (or genes) in relation to a marker gene (whose position is already known), is often used to search for disease-related genes.
Next-generation sequencing
A term used to describe the vast increase in genetic data generated.
Thousand Genomes Project
The most detailed study of human genetic variation to date.
Human genome
Rather than being a group of independent genes, the human genome consists of many genes that collaborate both with each other and with nongenetic factors inside and outside the body.
mitosis
Cellular reproduction in which the cell’s nucleus duplicates itself with two new cells being formed, each containing the same DNA as the parent cell, arranged in the same 23 pairs of chromosomes.
NOT sex cells!!!
meiosis
A specialized form of cell division that occurs to form eggs and sperm (also known as gametes)
zygote
A specialized form of cell division that occurs to form eggs and sperm (also known as gametes)
XX vs XY
females this pair consists of two chromosomes called X chromosomes; in males, the 23rd pair consists of an X and a Y chromosome
mutated gene
A permanently altered segment of DNA.
Most mutated genes are recessive.
susceptibility genes
Genes that make the individual more vulnerable to specific diseases or accelerated aging (
longevity genes
Genes that make the individual less vulnerable to certain diseases and more likely to live to an older age.
genetic variants in a human daf-16 version labeled FOX03A are linked to greater longevity in a wide range of people
X-linked inheritance
When a mutated gene is carried on the X chromosome.
Males more susceptible b/c they only have one X chromosome.
examples of X-linked inheritance diseases
Hemophilia
fragile X syndrome
Genetic imprinting
Occurs when the expression of a gene has different effects depending on whether the mother or the father passed on the gene.
examples of genetic imprinting diseases
Beckwith-Wiedemann syndrome (a growth disorder)
Wilms tumor (a type of cancer)
polygenic inheritance
many different genes determine a characteristic
gene-gene interaction
Describes the interdependent process by which two or more genes influence characteristics, behavior, diseases, and development
Down syndrome
A form of intellectual disability caused by the presence of an extra copy of chromosome 21.
An individual with Down syndrome has a round face, a flattened skull, an extra fold of skin over the eyelids, a protruding tongue, short limbs, and impaired motor and mental abilities.
Sex-linked chromosomal abnormalities
Involve the presence of an extra chromosome (either an X or Y) or the absence of one X chromosome in females.