PBS UNIT 2 – CLINICAL CARE (2.2.1-2.2.6)

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.