Lesson 1 : Introduction to Genetics and Cytogenetics Flashcards
What is Genetics?
Is the study of inherited traits, rooted in DNA, and their variations and transmission.
Transmission of traits and biological information between generations.
Heredity
Inherited Traits
- Obvious physical characteristics
- Disease and risk of developing disease
- Talents
- Quirks
- Personality traits
Are biochemical instructions that tell cells how to manufacture certain proteins.
Genes
What does DNA stand for?
Deoxyribonucleic Acid
Purpose of DNA
Transmits information in its sequence of four types of building blocks (Adenine, Thymine, Cytosine, Guanine)
If RNA, replace thymine with ______________
uracil
Constituted by a complete set of genetic instructions and characteristics of an organism, including protein-coding genes and other DNA sequences
Genome
What is Genomics
field that analyze and compare genomes
What is Exome
Tiny slice of the genome responsible for many aspects
About ___________________ genes accounting to _____% genome
20,325 & 85%
Total Exons of the Genome
Exome
Coding Region
Exons
What is Exons
type of genes that transcribe into mRNA
The complete set of genetic instructions which is stored as genes or sequences of DNA in a particular organism or species is known as the ____________.
Genome
A subset of the genome which only consists of the coding genes of a particular organism is known as the _________.
exome
The genome is large, about _________________ nucleotides.
3 200 000 000
The exome is small, about ___________ nucleotides (__% of the genome).
3 000 000 , 1%
Genomes are composed of _____________ including both ___________ and ______________.
total DNA content, coding and noncoding regions
Exome contains only _____________ of the _________________ as ____________.
coding regions, total DNA known, exons
__________ methods such as _______________________ can be used in sequencing the genome.
Simple, Sanger sequencing
___________ methods which include _________________ are required to sequence exome.
Complex, reverse transcription of mature mRNA
Levels of Genetics
- Instructions and information from DNA
- Genes
- Chromosomes
- Genomes
- Individuals
- Families
- Populations
Components of DNA
- Phosphate
- Sugar (deoxyribose)
- Base pair (Adenine-Thymine, Cytosine-Guanine)
Applications of Genetics and Genomics
Human Genetics
- Forensics
- Bioethics
- Psychology
- History
Consumer Genetics
- Pharmacogenomics
Genetic Genealogy
- Forensics and Ancestry
Compares DNA sequences of individuals to rule out identities, relationships, or ancestry, and can reveal if two individuals are related.
DNA Profiling
Considers gene variants to predict whether a specific drug will be effective or cause side effects in an individual
Pharmacogenetics
Pharmacokinetics
- body to drug
- Absorption, Distribution, Metabolism, Elimination (ADME)
Pharmacodynamic
- drug to body
- altering the body’s sensitivity to drug
What is Genome Editing
Adds, removes, or replaces specific genes
Historical Development
19th century
the universality of cell division as the central phenomenon in the reproduction of organisms was established.
expressed it in the famous aphorism “Omnis cellula e cellula.” (all cells come from cells)
Virchow
stated, “Heredity appears as a consequence of the genetic continuity of the cells by division.”
Wilson
Observations on the germ cells made by _____________, ___________,_______________,___________ and others gave support to the theory of the continuity of the ____________ proposed by ____________ in _________.
Van Beneden, Flemming, Strasburger, Boveri,
germplasm
Weismann in 1883
This theory stated that the transference of hereditary factors from one generation to the next takes place through the continuity of what he called ‘_____________,’ located on the _______________, and not through ________________.
germ plasm, sex elements, somatic cells.
Little attention was paid to Mendel’s work until the botanists _______________,______________, and ___________ in ____________ independently rediscovered Mendel’s laws.
Correns, Tschermack, De Vries
1901
In addition, cytologists had observed that the cycle the chromosomes undergo in the _____________ of germ cells was related to _______________ _____________.
meiosis, hereditary phenomena
_________________ suggested that sex determination was related to some special chromosomes; this theory was later corroborated by _______________ and ____________.
McClung (1901- 1902)
Stevens and Wilson (1905)
The experimental demonstration of the chromosome theory of heredity was finally established by _______________ and ____________, but it was ____________ and his collaborators, _______________, and ___________, who assigned to the genes (Johannsen), or hereditary units, definite loci within the chromosomes
Boveri and Baltzer
Morgan
Sturtevant, and Bridges
discovery of fertilization of animals by plants
O. Hertwig
postulated that chromatin , the substance of the nucleus that constitutes the chromosome must have linear organization
Roux
stated that the hereditary units are disposed along the chromosomes in an orderly manner
Weismann
What is Molecular genetics
Understand how the genetic material works at the molecular level.
Fundamental laws of heredity
Gregor Mendel (1865)
What does CRISPR stand for
Clustered
Regularly
Interpreted
Short
Palindromic
Repeats
What is Adaptive immunity
immunity acquired from exposure to an antigen.
experimental research on genetics and evolution
Bateson (1906)
Is the study of chromosomes and the related disease states caused by abnormal chromosome number and/or structure.
Cytogenetics
What is Transmission Genetics
Relationship between the transmission of genes from to offspring and the outcome of the offspring’s traits.
What is Population Genetics
Helps understand how processes such as natural selection have resulted in the prevalence of individuals that carry particular alleles.
Define the ff
CYTOLOGY
GENETICS
- study of cells
- study of heredity
- genome editing technology
- part of prokaryotic adaptive immunity
CRISPR-Cas9 System
found in S. pyogenes
Cas9
Spacers
bits of DNA that are foreign, originate from mobile genetic elements
Chromosome
23 pairs of somatic chromosomes (22 pairs of autosomes , 1 pair of sex chromosomes)
