the information in a human genome Flashcards
briefly explain the human genome project
1990-2003 - spearheaded by Dr Jerry Harrison with 20 volunteers
research on the genetic blueprint to find the base pair that makeup the human DNA
human genome that contains the overall specifications and instructions of the gene of human body
funded by the govt
only arnd 90% is discovered
it is the study of the inherited traits, rooted in DNA, and their variations and transmission
genetics
it considers how people are related and where their ancestors lived, using and comparing information from DNA sequences and evidence (example)
genetic genealogy
(old photographs, documents, maps, family storied and memories)
the transmission of of traits and biological information between generations
heredity
briefly explain genes
units of heredity
copies are passed from one generation to the next
tells cells how to manufacture proteins
long molecule DNA
Briefly explain DNA
biochemical that makes up the genes
found in the nucleus
nucleotides are the building blocks
- nitrogen containing base
-phosphate group
- sugar molecule
The complete set of genetic instructions characteristic of an organism, including protein-encoding genes and other DNA sequences
Genome
Briefly explain exome
encodes the protein
responsible for the aspects of health, unique
20,325 genes, 85% genetic disease
23 chromosomes
It is a field that analyzes and compare genomes of different species
Genomics
It addressed concerns that arise from the use of genetic technologies (includes)
Bioethics (tests, treatments, privacy and discrimination)
Briefly explain the level of genetics
Begins at molecular level
Cells
Tissue
Organs
Individuals
Families
Population
Those are the evolution of species
It resembeles a spiral stair case or a double helix
DNA
what do the “rails”/ backbone consist of
alternating chemical groups:
phosphate
sugar
they are the same in all DNA molecules
it is genetic information flows only in one direction (what is the direction)
central dogma
(DNA > RNA > PROTEIN)
(RNA directly to PROTEIN)
transcription is aka
gene expression
chains of the double helix untwist and separate and then each half build a new partner chain from free DNA bases
repliaction
it copies the sequence of one strand of DNA molecule into a related type of molecule, messenger ribonucleic acid (mRNA)
transcription
transcription involves what type of base
the fifth type of base called uracil
it is the opposite of transcription from RNA to DNA
reverse transcription
each 3 RNA bases in a row attach another type of RNA that functions as a connector, bringing in a particular amino acid. the amino acid aligns and link snap beads, forming a protein
translation
briefly explain
replication:
transcription:
reverse transcription:
translation:
replication: copying of dna
transcription: dna - rna
reverse transcription: rna - dna
translation: rna - proteins
briefly explain mutation (example)
change in genes
can have an effect at the whole person level = cause disease
(the gene encoding CFTR protein, causing cystic fibrosis when in a variant form)
the same protein-encoding gene may vary slightly in DNA base sequence from person to person
alleles
the dna sequence of the human genome are grouped of how many chromosomes
23
somatic cells
cells that doesn’t involve in reproduction like your muscle/ skin cells.
has 23 pairs of chromosomes. hence, 46 total
autosomes - 1 to 22 chromosomes, with 1 being the highest
sex chromosomes - the other 2 chromosomes (X&Y)
XX-FEMALE
XY-MALE
chart that displays the chromosomes pairs from largest to smallest
karyotypes
briefly explain mendelian and complex traits
mendelian traits
- by a single gene
(blood type)
complex traits
- by multiple genes and environmental factors (diet, lifestyle)
(height)
who discovered the patterns of trait transmission
Gregor Mendel
(mendelian traits)
it refers to the underlying DNA instructions (alleles present)
genotype
it is the visible trait, biochemical change oor effect on health (alleles expressed)
phenotype
it has an effect when present in just one copy (on one chromosomes)
dominant allele
it must be present on both chromosomes of a pair to be expressed
recessive allele
it charts that depict the members of a family and indicate which individuals have particular inherited traits
pedigree
comparing DNA sequences among individuals to rule out identity, relationships or ancestry
establishing identity
it is the techniques, statistical analyses and machine learning approached that are used to compare DNA sequences between and among individuals
dna profiling
dna profiling is useful in identifying
victims of natural disasters and in analyzing food
it connects the past to present, from determining family relationships to establishing geographic origins of specific populations
dna analysis
it provides views into past epidemics
dna testing
it is alterating a gene or genome in a way that does not occur in nature
gene modification
it adds a gene from a different species
recombinant dna technology
genome editing
it is more specific and powerful
can replace, remove or add specific genomes into the cells of any organism
combining analysis of genetic diversity with reproductive technologies create a way to rebuild populations that are headed toward species extinction
conservation of genetics
learning about health and development of disease through genome sequencing
precision medicine
it iis used to guide prescription of more than 150 drugs, according to the food and drug administration
pharmacogenetics
it determines the order of the DNA bases of all parts of the genome that encode proteins
exome sequencing
it is valuable in identifying extremely rare disease
exome sequencing
