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Biotechnology
use of technology to alter genetic makeup of living organisms to produce useful products
Genetic engineering
direct modification of an organism DNA to ensure expression of a desired trait
Recombinant DNA
DNA artificially created by combining genetic material from different sources
Genome
complete set of DNA including all genes in an organism
Human Genome Project
first complete mapping of the entire human genome completed in 2003
ENCODE project
research project to interpret functional elements of the human genome sequence
1000 Genomes Project
effort that sequenced genomes from many individuals to study human variation
Gene map
diagram showing positions of genes on a chromosome
Restriction enzymes
enzymes that cut DNA at specific recognition sequences
Restriction site
specific DNA sequence where a restriction enzyme cuts
Sticky ends
single stranded overhangs that allow DNA fragments to bond with complementary pieces
DNA ligase
enzyme that connects DNA fragments by forming bonds in the backbone
Polymerase chain reaction
laboratory method used to rapidly copy specific DNA sequences without cells
DNA amplification
process of producing many copies of a DNA segment
Gel electrophoresis
technique that separates DNA fragments by size using an electric field
DNA fingerprinting
identification method based on unique DNA fragment patterns
Personal genome sequencing
determining the full DNA sequence of an individual to assess traits and disease risk
Gene cloning
production of many identical copies of a gene or DNA segment
Transformation
process of introducing foreign recombinant DNA into a host cell
Plasmid
small circular bacterial DNA used as a vector for gene insertion
Vector
carrier DNA molecule used to transfer genetic material into a cell
Bacterial transformation
genetic modification of bacteria to produce specific proteins
Insulin production by bacteria
process where bacteria are engineered to make human insulin for medical use
Gene therapy
treatment that adds or edits genes to correct genetic disorders
CRISPR
precise gene editing system that can cut and repair DNA sequences
Stem cells
undifferentiated cells capable of developing into specialized cell types
Selective breeding
human directed breeding to enhance desired traits
Hybridization
crossing genetically different individuals to produce offspring with combined traits
Mutation
change in the nucleotide sequence of DNA
Somatic mutation
mutation in body cells that is not inherited by offspring
Germ line mutation
mutation in reproductive cells that can be passed to offspring
Mutagen
environmental factor or chemical that increases mutation rate
Replication error
mistake during DNA copying that can cause mutations
Gene mutation
alteration in the DNA sequence of a single gene
Chromosome mutation
change affecting chromosome structure or number
Point mutation
substitution of one nucleotide for another
Frameshift mutation
insertion or deletion that alters the reading frame of codons
Insertion mutation
addition of one or more nucleotides into DNA
Deletion mutation
removal of one or more nucleotides from DNA
Duplication mutation
chromosome segment copied resulting in extra genetic material
Translocation mutation
exchange of segments between nonhomologous chromosomes
Nondisjunction
failure of chromosomes to separate properly during cell division
Aneuploidy
abnormal number of chromosomes in a cell
Trisomy
condition with three copies of a chromosome
Trisomy 21
genetic condition caused by three copies of chromosome 21
Down syndrome
disorder caused by trisomy 21 due to nondisjunction
Pedigree
diagram used to trace inheritance of traits through a family
Pedigree notation
standardized symbols used to represent individuals and relationships
Autosomal recessive trait
trait expressed only when two recessive alleles are present
Autosomal dominant trait
trait expressed when at least one dominant allele is present
Sex linked recessive trait
trait carried on X chromosome often affecting males more
Carrier
individual with one recessive allele who does not show the trait
Generation skipping
pattern where recessive traits appear after one or more unaffected generations
Diploid cell
cell containing two sets of chromosomes one from each parent
Gamete
haploid reproductive cell such as egg or sperm
Haploid cell
cell with one set of chromosomes
Gene
segment of DNA that codes for a protein
Allele
different form of a gene
Homologous chromosomes
chromosome pair with the same genes in the same order
Purebred organism
organism whose ancestors share the same genetic traits
Cross
mating between two organisms to study inheritance
Parental generation
original parents in a genetic cross
First filial generation
first generation of offspring from parental cross
Second filial generation
offspring from crossing individuals of the first generation
Homozygous
having two identical alleles for a gene
Heterozygous
having two different alleles for a gene
Dominant allele
allele that expresses its trait whenever present
Recessive allele
allele expressed only when dominant allele is absent
Genotype
genetic constitution of an organism
Phenotype
observable physical or functional traits
Law of dominance
principle that dominant alleles mask recessive alleles
Law of segregation
allele pairs separate during gamete formation so each gamete receives one
Law of independent assortment
alleles of different genes assort independently during gamete formation
Punnett square
grid used to predict possible genotypes of offspring
Monohybrid cross
cross involving one trait
Dihybrid cross
cross involving two traits simultaneously
Probability in genetics
likelihood that a specific genotype or phenotype will occur
Incomplete dominance
inheritance where heterozygote shows intermediate phenotype
Codominance
inheritance where both alleles are fully expressed in heterozygote
Multiple alleles
gene with more than two possible allele forms in a population
Blood type system
inheritance determined by A B and i alleles
Agglutinogens
antigens present on surface of red blood cells
Antibodies
proteins in plasma that recognize and attack foreign antigens
Universal recipient
individual with AB blood type able to receive all blood types
Universal donor
individual with O blood type able to donate to all blood types