3-CYTOGENICS Flashcards
The study of chromosomes and their abnormalities, including normal and abnormal chromosomes and the causes of chromosomal abnormalities.
Cytogenetics
Examines the number and structure of chromosomes to detect abnormalities using karyotyping.
Chromosome Analysis
Identifies the location of specific genes on chromosomes to aid in understanding genetic inheritance and disease mechanisms.
Gene Mapping
Identifies chromosomal abnormalities linked to cancers, such as the Philadelphia chromosome in chronic myeloid leukemia (CML).
Cancer Research and Diagnosis
Detects chromosomal abnormalities like aneuploidy (e.g., Down syndrome) and structural abnormalities such as deletions, duplications, translocations, and inversions.
Understanding Genetic Disorders
Helps identify causes of infertility, recurrent miscarriages, or developmental delays.
Reproductive Health
Uses techniques like karyotyping and fluorescence in situ hybridization (FISH) to screen for chromosomal abnormalities in fetuses.
Prenatal Diagnosis
Guides personalized treatments, especially in oncology, by determining the genetic basis of disease and selecting targeted therapies.
Personalized Medicine
The process of analyzing cells in a sample of tissue, blood, bone marrow, or amniotic fluid to look for chromosomal changes.
Cytogenetic Analysis
Traditional method of cytogenetic examination involving the microscopic study of chromosome structure, number, and arrangement.
Basic Chromosomal Analysis
A technique that stains chromosomes to produce specific banding patterns for identifying chromosomes and detecting structural abnormalities.
Chromosome Banding
Uses quinacrine, a fluorescent dye, to stain chromosomes, producing bright and dark bands under a fluorescence microscope.
Quinacrine Banding (Q-banding)
Uses Giemsa stain after enzyme treatment to create a pattern of dark and light bands, commonly used in karyotyping.
Giemsa Banding (G-banding)
The opposite of G-banding, with G-C rich regions staining dark and A-T rich regions staining light.
Reverse Banding (R-banding)
Stains constitutive heterochromatin, mainly in centromeric regions, to help identify chromosomal abnormalities.
C-banding
Stains nucleolar organizer regions, which contain ribosomal RNA genes.
Nucleolar Organization Stains (NOR-staining)
The process of organizing and analyzing an individual’s chromosomes to detect abnormalities.
Karyotyping
A modern technique combining molecular biology with cytogenetics to detect specific DNA sequences or structural changes with high resolution.
Molecular Cytogenetic Analysis
Uses fluorescent probes to identify specific DNA sequences on chromosomes, widely used for detecting chromosomal deletions or translocations.
Fluorescence In Situ Hybridization (FISH)
Detects chromosomal copy number variants, such as duplications or deletions, without needing cell culturing.
Comparative Genomic Hybridization (CGH)
Uses multiple fluorescently labeled probes to assign distinct colors to each chromosome for detailed analysis.
Spectral Karyotyping (SKY) Technique
