Upgrade to remove ads
Only $2.99/month

Module 1 Genetics

Terms in this set (56)

Genotype
-the actual code in the DNA that determines the trait
-The combination of alleles that determines phenotype
-genetic instructions
-determines disease outcome (phenotype) and plays an important role in understanding family genetic history
Phenotype
The trait that can be observed and measured when the allele is expressed
what is observed when the alleles are expressed
allele
instructions
determines phenotype
different versions of a gene (gene variants)
can be dominant or recessive
genome
entire DNA in a single cell
contains all instructions for an organism
is packaged into 23 pairs of chromosomes
gene
each instructional unit
contain the instruction or code for proteins and can vary slightly in variants called alleles
segment of DNA that codes for proteins
a gene codes for
a protein
proteins
carry out all structures and functions of the human body
what happens when a gene makes the protein/ when a gene instructs the production of a protein
it is expressed
DNA
a long strand of nucleotides
the basis of life
another name for nucleotides
bases
Nucleotides
link from long chains called sequences through sugar phosphate bonds
what forms a vertical backbone for one side of DNA
nucleotides (bases)
nucleotides in a single strand of a DNA molecule are linked together by
sugar phosphate bonds
what is in the middle of nucleotides
nitrogenous bases connected by hydrogen bonds
nitrogenous bases determine what
the "flavor" of the base (ACGT)
histones
proteins that help compress and package long strands of DNA into chromosomes
how many sets of chromosomes are there
how many total?
sets: 23
total: 46
when histones clump together they form
a nucleosome
nucleosome
the DNA winds
chromatin
when DNA is associated with histones
DNA+Protein
When a strand of DNA is in the compressed, condensed form
chromosome
Each human cell has ___ copies of each chromosome
2
Genetics in healthcare
-nearly every disease has a genetic component meaning you can inherit genes that make you more likely to develop a disease
-allows for the identification of the genetic component of diseases that predict, treat, and prevent diseases from occurring
What can determine how a disease responds to treatment and the efficacy of a drug
genes
molecular stethoscope
DNA and RNA based analyses used to assess a patient
Who helped determine the overall structure of DNA by taking Xray images of DNA
Wilkins and Franklin
Watson and Crick
associated with discovering the structure of DNA and won Nobel Prize. They recognized its ability to replicate itself
what is it called when DNA copies itself
replication
Expression of DNA
contains instructions for the development of a functional organism
When DNA changes
mutation and variation
Every time a human cell divides
DNA must replicate itself
DNA replication is
semiconservative
a multi step process involving the participation of enzymes which a re proteins that catalyze reactions
Each original strand of DNA is a
template for the new DNA strand when it unwinds
The original strand of DNA
parental strand
When DNA replicates
one half is the parental strand and the other half is new daughter DNA
Helicase
helps unwind and open up the ladder leading to two separate parental strands
Binding proteins
stabilize separate strands
attach and keep the free floating strands apart
Primase
makes a short stretch of RNA on each side of the template
adds short primer to template strand
primer
short stretch of RNA
helps jump start DNA replication
few nucleotides long and consist of RNA
give polymerase a spot to add nucleotides and added according to their complementary base
A primer is important because
DNA Polymerase can only add new nucleotides onto an existing strand
it needs something to start with because it cant get nucleotides out of thin air
Quiz version of what a primer is
-stretch of RNA that provides an open 3' end for extension
-short stretch of nucleotides that allows DNA polymerase to do its job during DNA replication
DNA polymerase can only add nucleotides to
an existing 3' end so DNA replication proceeds in a 5' to 3' direction
one half of DNA is replicated____
the other half is replicated_____
continuously
discontinuously in small fragments called Okazaki Fragments
Okazaki fragments
short stretches of newly synthesized DNA
Ligase
seals gaps to make one long strand of DNA.
joins Okazaki fragments and seals nicks in sugar phosphate backbone
DNA replication occurs all along a chromosome in
replication bubbles
When DNA makes a mistake
mutation is formed
autosome
22 pairs of chromosomes that dont differ between sexes
genomics
the study of function and interaction of all material in the genome
one nucleotide has 3 components. What are they
sugar
phosphate
nitrogenous base
RNA is different from DNA
RNA has a different sugar component
when nucleotides/bases link up it is called
a sequence
when nucleotides link up forming chemical bonds between sugar and phosphate groups
sugar-phosphate backbone
antiparallelism
the other side of DNA is "flipped"
one purine always bonds to a
pyrimidine
when 2 nucleotides are hydrogen bonded it is called
complementary base pairs
YOU MIGHT ALSO LIKE...