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Differential Diagnosis
A list of possible diseases and disorders.
Tumor
A lump or mass of cells caused by uncontrolled growth or cell division.
Interphase
Stage where DNA replicates to form two copies of each chromosome.
Mitosis
Cell division process with stages like Prophase, Metaphase, Anaphase, Telophase, and Cytokinesis.
Homologous Chromosomes
Chromosome pairs from each parent with similar gene composition, size, and structure.
Biopsy
Removal of cells or tissues from a patient's body for microscopic study.
Pathologist
Medical professional examining bodies, tissues, and fluids for signs of disease.
Benign Tumors
Non-cancerous growths considered harmless.
Malignant Tumors
Cancerous growths that invade other tissues.
Cancer
Disease caused by uncontrollable cell division and spread.
Metastasis
Spread of cancerous cells to other body parts.
Basal Cell Carcinoma
Skin cancer originating in the epidermis.
Proteins
3D polymers made of amino acids, determining cell functions.
Neurofibromin
Protein regulating mitosis and cell growth.
Gene
DNA sequence coding for a specific protein and phenotype.
mRNA
RNA transcribed from DNA, used in protein synthesis.
Transcription
Process of copying DNA information into mRNA in the nucleus.
Translation
Process of protein synthesis from mRNA in the cytoplasm.
Codon
Three-base sequence specifying an amino acid.
Anticodon
Sequence on tRNA matching codons during translation.
Mutation
Alteration in DNA sequence leading to genetic diversity.
Silent Mutation
Mutation with no effect on the cell.
Point Mutation
Mutation affecting a single base.
Frameshift Mutation
Mutation adding or removing bases, shifting the reading frame.
Genotype
Genetic constitution of an individual.
Phenotype
Physical traits determined by genetic makeup.
Alleles
Different forms of a gene at the same chromosome location.
Carrier
Individual with a recessive allele for a trait but doesn't show it.
Pedigree
Diagram showing genetic traits across generations.
Autosomes
Chromosomes not determining sex.
Sex Chromosomes
Chromosomes determining an individual's sex.
Endocrine Glands
Glands producing hormones.
Hormones
Chemicals inducing specific effects on cell activity.
Cytogeneticist
Specialist preparing and analyzing chromosomes.
Karyotype
Image of chromosome pairs arranged by size and shape.
Chromosomal Instability
Gaining or losing whole chromosomes during mitosis.
Meiosis
Cell division forming gametes with half the chromosome number.
HeLa Cell Line
Derived from cancer cells of Henrietta Lacks.
Chromosome Spread
Visual display of stained chromosomes under a microscope.
Metaphase I
Homologous chromosomes align in the middle of the cell
Anaphase I
Homologous chromosomes separate to opposite sides of the cell
Telophase I
Formation of cleavage furrow
Cytokinesis
Formation of two new cells
Prophase II
Individual chromosomes form
Metaphase II
Chromosomes align in the middle
Anaphase II
sister chromatids separate to opposite sides
Telophase II
Cell division completion
Cytokinesis II
Formation of four new cells
Mitosis
Involves sister chromatids, diploid cells, genetically identical daughter cells, somatic cells, and one stage
Meiosis
Involves homologous chromosomes, haploid cells, genetically unique daughter cells, sex cells, two stages, and crossing over in Metaphase I
Nondisjunction
Failure of chromosomes to separate properly during cell division
Monosomy
Presence of only one chromosome
Trisomy
Presence of three chromosomes
Deletion
Removal or loss of a chromosome segment
Insertion
Placement of a chromosome segment in the wrong orientation
Inversion
Placement of a chromosome segment in the wrong orientation
Duplication
Replication of a chromosome segment next to the original copy
Translocation
Exchange of gene segments between two chromosomes
Sources for human karyotyping
White blood cells, bone marrow, skin cells, cheek cells
Familial Hypercholesterolemia (FH)
Autosomal dominant disorder affecting LDL elimination
Inheritance of FH
Mutation in chromosome 19 affecting cholesterol removal
Direct-to-consumer (DTC) gene testing
Testing for genetic predispositions available online or in stores
PCR purpose
Rapid DNA replication
Restriction enzymes
Enzymes cutting DNA at specific sites
RFLPs
DNA fragments of different sizes
Pedigree
Diagram showing FH heterozygous man marrying unaffected woman, having affected sons and unaffected daughter, with the daughter having an unaffected daughter.
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