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bsc 1005
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Nucleus
Cell's control center containing DNA in chromosomes.
Chromosomes
DNA + proteins, control protein production.
Nuclear Envelope
Double membrane around nucleus; regulates passage in/out.
Nuclear Pores
Openings in the nuclear envelope; allow materials like RNA to pass.
Nucleolus
Ribosome production site.
Chromatin
DNA-protein complex, uncondensed in interphase, condensed during cell division.
DNA
Genetic material, stores information in sequences of nucleotides.
Nucleotide
DNA unit with three parts—deoxyribose sugar, phosphate group, nitrogen base.
Nitrogen Bases
Adenine (A), Guanine (G), Cytosine (C), Thymine (T).
Double Helix
DNA structure, two strands twisted around each other.
Base Pairing
A pairs with T, C pairs with G.
Backbone
Sugar-phosphate structure holding DNA together.
Purpose of DNA Replication
Creates exact copies of DNA for cell division.
Semi-Conservative
Each new DNA has one old and one new strand.
Process of DNA Replication
DNA strands separate; each serves as a template for new strands.
DNA Synthesizer
Machine to create specific DNA sequences (e.g., primers).
PCR (Polymerase Chain Reaction)
Technique to amplify specific DNA segments.
Thermal Cycler
Device used in PCR to heat/cool DNA for replication.
Purpose of Gel Electrophoresis
Separates DNA fragments by size.
Process of Gel Electrophoresis
DNA moves through gel with electric current; small fragments move faster.
Result of Gel Electrophoresis
Visible DNA bands for analysis.
STRs
Repeated DNA sequences unique to individuals.
Application of STRs
Identify individuals by comparing STR patterns at 13 specific sites.
Method of DNA Profile Analysis
Uses PCR and gel electrophoresis on STR sites to create DNA profiles.
Uses of DNA Profile Analysis
Crime scene ID, paternity tests, identifying remains, ancestry analysis.
CODIS
U.S. DNA database with profiles from offenders and forensic samples.
Use of CODIS
Matches DNA profiles for criminal investigations and serial crime links.
Eukaryotic nucleus
Membrane-bound organelle containing cell's genetic material.
Nuclear envelope
Double membrane surrounding the nucleus.
Nuclear pores
Openings allowing molecule passage between nucleus and cytoplasm.
Nucleolus
Dense region where ribosomes are assembled.
Chromosomes
Thread-like structures carrying genetic information.
Histones
Proteins around which DNA is tightly coiled.
Chromatin
Complex of DNA and proteins in non-dividing cells.
Centromere
Constricted region for spindle fiber attachment.
Mendelian inheritance
Inheritance patterns established by Gregor Mendel.
Dominant allele
Allele determining phenotype in a single copy.
Recessive allele
Allele determining phenotype only in two copies.
Law of segregation
Alleles separate during gamete formation.
Incomplete dominance
Heterozygote exhibits intermediate phenotype.
Codominance
Both alleles expressed equally in heterozygote.
Polygenic inheritance
Multiple genes contribute to a single trait.
Sex-linked inheritance
Inheritance of genes on sex chromosomes.
X-linked traits
Traits controlled by genes on the X chromosome.
Punnett square
Diagram predicting offspring genotypes and phenotypes.
Pedigree
Diagram tracking trait inheritance across generations.
Transcription
Process of copying DNA sequence into mRNA.
Translation
Assembly of amino acids based on mRNA codons.
RNA polymerase
Enzyme catalyzing mRNA synthesis during transcription.
Codons
Triplets of nucleotides specifying amino acids.
Hemophilia
X-linked recessive disorder causing bleeding issues.
Mitosis
Cell division ensuring equal DNA distribution.
Meiosis
Cell division producing gametes with half DNA.
Transfer RNA (tRNA)
Molecules that transport amino acids to ribosomes.
Polypeptide
Chain of amino acids forming a protein.
Mutation
Change in DNA sequence affecting genetic information.
Point Mutation
Change in a single nucleotide within a gene.
Silent Mutation
Mutation that does not alter amino acid sequence.
Missense Mutation
Mutation that changes one amino acid in sequence.
Nonsense Mutation
Mutation introducing a premature stop codon.
Frameshift Mutation
Insertion or deletion altering gene reading frame.
Single-gene Disorder
Genetic disease caused by mutation in one gene.
Chromosomal Disorder
Abnormalities in chromosome number or structure.
Multifactorial Disorder
Disease from genetic and environmental factor interactions.
Mitochondrial Disorder
Disorder caused by mutations in mitochondrial DNA.
Physical Examination
Assessment revealing characteristic features of disorders.
Family History
Analysis of inherited patterns for genetic risk.
Genetic Testing
DNA analysis to identify specific mutations.
Prenatal Testing
Screening during pregnancy for genetic disorder risks.
Whole-genome Shotgun Method
Technique for sequencing entire genomes using fragments.
DNA Profiling
Identifying individuals based on unique DNA sequences.
Gene Therapy
Treatment aiming to correct genetic disorders.
Retrovirus
Virus used as a vector in gene therapy.
Cell Theory
All living organisms are composed of cells.
Cell Division
Process producing two daughter cells from one.
Sexual Reproduction
Fusion of gametes to form a zygote.
Fertilization
Sperm and egg fusion forming a zygote.
Zygote
Diploid cell from sperm and egg fusion.
Asexual Reproduction
Reproduction without gamete fusion, offspring are identical.
Gametes
Haploid cells involved in sexual reproduction.
Life Cycle
Sequence of reproductive stages from conception onward.
Diploid (2n)
Cell with two sets of chromosomes, 46 in humans.
Haploid (n)
Cell with one set of chromosomes, 23 in gametes.
Somatic Cells
Body cells excluding reproductive cells.
Gonads
Organs producing gametes; testes in males, ovaries in females.
Karyotype
Visual representation of chromosomes in homologous pairs.
Homologous Chromosomes
Chromosome pairs with same traits from each parent.
Sex Chromosomes
Chromosomes determining an individual's sex (X, Y).
Cytokinesis
Division of cytoplasm at end of cell division.
Independent Assortment
Random distribution of chromosomes during meiosis I.
Random Fertilization
Any sperm can fuse with any egg.
Crossing Over
Exchange of genetic material between homologous chromosomes.
Nondisjunction
Failure of chromosomes to separate properly during meiosis.
Trisomy 21
Disorder with three copies of chromosome 21.
Down Syndrome
Genetic disorder caused by trisomy 21.
Reproductive Systems
Organ systems for gamete production and delivery.
Spermatogenesis
Process of sperm production in the testes.
Prostate Gland
Secretes fluid contributing to semen in males.
Urethra
Tube carrying urine and semen in males.
Vas Deferens
Duct transporting sperm from epididymis to urethra.