Cytogen Lesson 1 Flashcards
Decides human genotype
Human Genome Project
Is a vast store of info encoded i nthe sequence of bldg. blocks of DNA
Human Genome
Affects our health and traits and holds clue to how we are biologically related to one another
Genetic Info
Study of inherited traints, rooted in DNA, and their variations and transmission
Genetics
Touches forensics, bioethics, psychology, and even history
Genetics
Considers how people are related and where their ancestors lived
Using and comparing info from DNA sequence and evidence such as docu, old photog, ,maps and fam stories and memories
Genetic Genealogy
Transmission of traits and biological info between generations
Heredity
range from obvious physical characteristics to many aspects of health (disease risk of developing disease)
Inherited traits
Functions as the units of heredity in that copies of genes are passed from 1 gen to next
Genes
Biochemical instructions that instructs cells for protein sysnthesis
Genes
Meaning of DNA
Deoxyribonucleic AcidT
Transmit information in its sequence of 4 types of cells building blocks
Located in nucleus
DNA
4 Types of building blocks
Adenine
Guanine
Thymine
Cytosine
Constitute a complete set if genetic instructions, characteristics of an org. including protein-encoding genes and other DNA sequence
Genome
Tiny slice of genome that encodes protein and is responsible for many aspects of health and our traits, including our differences
Exome
Only about 1 percent of the 3.2 billion building blocks of our genome specify proteins
Exome
Constitute the analyzing and comparing genomes
Genomics
Addresses concerns that arise from the use of new genetic technologies, privacy, and discrimination
Bioethics
Levels of Genetics and Genomics
Molecular Level
Cells
Tissues
Organs
Individuals
Familes
Population
Evolution of species
The “rails” or backbone is consisted of alternating chem groups
Double helix
DNA: Molecular Level
Alternating chem groups
Sugars
Phosphates
Nitrogenous Bases
Nitrogenous bases:
Adenine and Thymine
Cytosine and Guanine
The chemical structure of DNA gives the 2 key abilities that are essential for being the basis of life
- DNA can replicate itself when a cell divides
- DNA info accessed to manufacture specific proteins
Genetics info flows only in 1 direction from DNA -> RNA -> Protein
Central Dogma Theory
Chains of the double helix untwist and separate and each half builds a new partner chain from free DNA bases
Resulting daughter cells inherit identical copies of the genome during cell division
Chemical attractions (hydrogen bonds) hold the bases of a pair together
DNA Replication
Copies the sequence of part of one strand of DNA into related type of molecule -> mRNA which has uracil as base
Transcription/Gene Expression
Each 3 RNA bases in a row attract another type of RNA that functions as a connector, bringing a particular amino acid
Translation
illustrates how a missing/abnormal protein causes the symptoms of an inherited disease
The funcitoning protein works like a selective doorway in cells lining the airways and certain other body parts, thickening secretions when it doesn’t work properly
Cystic Fibrosis
Provide the traits associated with genes
Proteins
Meaning of CFTR
Cystic Fibrosis Transmembrane Conductance Regulator
A chane in a gene that can have an effect at the whole=person level
Once a gene mutates, the change passed on when the cell that contains it replicated its DNA and divides
Mutation
In CFTR
A change of a “C” in the DNA sequence at a specific location in the gene to a “T” inserts the amino acid aspartic acid rather than the amino acid glycine as the protein forms which blocks protein channels
Same protein-encoding gene may vary slightly in DNA base seq from person-to-person
Gene variants
Changes in DNA sequence that distinguish alleles arise by mutation
Alleles
Threadlike structure located at nucleus
Group of DNA sequences of the human genome
Chromosomes
Chromosomes consists of:
23 chromosomes (sex cells)
46 chromosomes (23 pairs) somatic
22 out of 23 pairs of chromosomes that do not differ between sexes
Autosomes
Displays the chromosomes pairs from largest to smallest
Karyotype
A trait caused predominantly by a single gene
Most characteristics are complex traits
Mandelian Trait
Determined by 1/more genes and env factors
Eg hair color
Complex Traits
Approximately 30 trillion cells
All somatic cells execpt RBCs contain 2 copies of the genome
Cells
Specialization of distinctive cells types
The use/experssion to diff subsets to genes to manufacture proteins drives differentiation
Differentiation
Unspecialized
Can divide to yield another stem cell and a cell that differentiates
Provide a reserve supply of cells that enable an organ to grow and repair damage.
Stem Cells
Groups of differentiated cells assemble and interact with each other to form aggregates calles
Tissues
Intertwine and later to form organs
Tissues
Refers to the underlyin DNA instructions
Allele Present
Genotype
Visible trait, biochemical change/effect on health
Alleles expressed
Phenotype
2 types of Alleles
Dominant
Recessive
Has an effect when present in just one copy (1 chromosome)
Dominant
Must be present on both chromosomes of a pair to be expressed
Recessive
Depict the members of a family
Indicate which individuals have particular inherited traits
Pedigrees/Pedigree Chart
Group of individuals that can have healthy offspring together
Large collection of alleles of distinguised by their frequency
Population
All alleles in a population
Gene Pool
Refers to the techniques, statistical analyses, and machine learning approaches that are used to compare DNA seq betweeen and among individuals
DNA Profiling
Most often used in forensic science
DNA Profiling
Can connect past to present, from determining family relationships to establishing geographic origins of specific populations
DNA Testing/Dna Analysis
Sometimes confirms findins from anthropology and history and sometimes contradicts it
DNA Evidence
Combining analysis of genetic diversity with reproductive technologies creates a way to rebuild populations that are headed toward species extinctions. This is the case for the northen white rhineceros of Africa
Conservation Genetics
Determines specific DNA
DNA data are considered along with other types of information that can impact health, such as environmental exposures, exiercise, diet, lifesyle factros, family histories, and microbiomes
Precision Medicine
Many microbes that live in and on the human body, collectively
Microbiome
A precision medicine apporach consults DNA information to select drugs that are most likely to work and least likely to have side effects in a particular indi
Pharmacongenetics
Aletering a gene or genome in a way that does not occur in nature
Genetic Modification
Adds a gene from different species
Recombinant DNA technology
More specific and powerful
Can replace, remove, or add specific genes into the cells of any organisims
Genome Editing
Uses enzymes that cut both strands of DNA double helix at selected site
CRISPR-Cas9
Determines the order of the DNA bases of all parts of genome that encode proteins
Valuable after more conventional diagnostics tests, such as tests for single gene disease and chromosomes abnormalitles, do not explain a person’s symptoms.
Exome Sequencing
A field that describes much of the invisible living world by sequencing all of the DNA in a habitat such as soil, insect’s gut, garbage
Metagenomics