Introduction to Cytogenetics — Prelim Flashcards
A branch of science that deals with the study of CELLS in terms of structure, function, and chemistry.
Cytology
It is the study of inherited traits, rooted in DNA, and their variations and transmission.
Genetics
It is the transmission of traits and biological information between generations.
Heredity
A units of heredity in that copies of genes are passed from one generation to the next.
Genes
The complete set of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequences.
Genome
They contain all the genetic information necessary to create a living being.
Chromosome
Dominant vs. Recessive
Allele
It refers to the underlying DNA instructions (alleles present).
Genotype
It is the visible trait, biochemical change, or effect on health (alleles expressed).
Phenotype
Humans have about how many genes?
20,000- 30,000 genes
It is composed of the molecule deoxyribonucleic acid, more familiarly know as DNA.
Gene
DNA is very long protein molecule that is composed of base pairs called?
Nucleotides
Chromosomes is discovered by whom?
Karl Wilhelm von Nageli
He described chromosomes using salamander.
Walther Flemming
He coined the term chromosome.
Heinrich Waldeyer
All full complement chromosomes arranged from the largest to smallest called?
Karyotype
How many chromosomes in human cells?
46
A heritable factor that controls a specific characteristics.
Gene
alternative forms of gene
Alleles
- Expressed when present (even in one copy)
- Represented by capital letters (e.g., B)
Dominant alleles
- Expressed only when two copies are present
- Represented by lowercase letters (e.g., b)
Recessive alleles
Genetic makeup of an organism.
Genotype
Observable characteristics
Phenotype
Cyto means what?
Cell
3 several main functions that the cell must carry out.
- Molecule transport
- Energy conversion
- Reproduction
2 types of cells
- Prokaryotic
- Eukaryotic
It is a membrane delineated compartment that houses the eukaryotic cells DNA.
Nucleus
Eukaryotic DNA is organized in one or more linear molecules called?
Chromosomes
It is a branch of genetics studying inheritance related to chromosome structure and function.
Cyotogenetics
It discipline that describes how physical characteristics (traits) are passed along from one generation to another.
(branches of genetics)
Classical genetics
The study of genes in populations of animals, plants, and microbes provides information on past migrations, evolutionary relationships and extents of mixing among different varieties and species, and methods of adaptation to the environment.
(branches of genetics)
Population genetics
The study of the chemical and physical structures of DNA, its close cousin RNA (ribonucleic acid), and proteins. Molecular genetics also covers how genes do their jobs.
(branches of genetics)
Molecular genetics
A highly mathematical field that examines the statistical relationships between genes and the traits with which they are associated.
(branches of genetics)
Quantitative genetics
Genetic concepts have been found in the literature of the Greeks. “The Greeks were tied with the idea of heredity because of the constant referral to lineages of kings and gods”
Bazopoulou — Kyrkanidou
He proposed that “humors” served as bearers of traits.
Aristotle (350BC)
He proposed the theory of epigenesis, which states that an organism develops from the fertilized egg by a succession of developmental events that eventually transform the egg into an adult.
William Harvey (1600)
They proposed the cell theory, stating that all organisms are composed of basic structural units called cells, which are derived from preexisting cells.
Matthias Schleiden and Theodor Schwann
He formulated the theory of Natural Selection.
Charles Darwin
The characteristic number of chromosomes a eukaryote has in most of its cells.
Diploid number (2n)
Chromosomes in diploid cells exist in pairs called?
“homologous chromosomes”
Chromosomes behave differently during the two forms of cell division which are?
Mitosis & Meiosis
The chromosomes are copied and distributed to each daughter cell. Both cells obtain a diploid set of chromosomes.
(Mitosis & Meiosis)
Mitosis
The cells receive only one chromosome from each chromosome pair, and the resulting number of chromosome is called the haploid number (n).
(Mitosis & Meiosis)
Meiosis
What year is Dolly the sheep was born?
1996
It is the study of allele frequency distribution and change.
Population genetics
4 main evolutionary processes of Population Genetics
- Natural Selection
- Genetic Drift
- Mutation
- Gene Flow
It is a set of organism in which any pair of members can breed together. This implies that all members belong to the same species and live near each other.
Population
Process by which heritable traits that make it more likely for an organism to survive and successfully reproduce become more common in a population over successive generations.
(4 main evolutionary processes of Population Genetics)
Natural selection
The change in relative frequency in which a gene variant (allele) occurs in a population due to random sampling and chance.
(4 main evolutionary processes of Population Genetics)
Genetic drift
Changes in the DNA sequence of a cell’s genome maybe caused by radiation, viruses, transposons, and mutagenic chemicals, as well as errors that occur during meiosis or DNA replication.
(4 main evolutionary processes of Population Genetics)
Mutation
Exchange of genes between populations which are usually of the same species.
(4 main evolutionary processes of Population Genetics)
Gene flow
Cytogenetics involves the examination of chromosomes and their abnormalities.
(methods of genetic study)
Cytogenetic testing
Clinical testing for a biochemical disease utilizes techniques that examine the protein instead of the gene.
(methods of genetic study)
Biochemical testing
Direct DNA analysis is possible only when the gene sequence of interest is known.
(methods of genetic study)
Molecular testing
Can offer form evidence that a disease transmitted from parent to child is linked to one or more genes.
(methods of genetic study)
Genetic mapping
Provides clues about the chromosome contains the gene and precisely where it lies on that chromosome.
(methods of genetic study)
Genetic mapping
It is a study of genome. It studies the structure, function, and evolution of genes and genomes.
(GPB)
Genomics
It identifies the et of proteins present in a cell under a given set of conditions, and studies their functions and interactions.
(GPB)
Proteomics
Subfield of information technology used to store, retrieve and analyze the massive amount of data generated by genomics and proteomics.
(GPB)
Bioinformatics