GENETICS work sheet

The following is a list of terms, or concepts that pertain to genetics that can be identified with your
textbook, and of course google.com. This will be a helpful list for the lab on Mendelian genetics, and then
replication transcription and translation (protein synthesis, and DNA synthesis).
I. Terms / words:
Allele:

An allele is a variant form of a gene. Some genes have a variety of different forms, which are
located at the same position, or genetic locus, on a chromosome. Humans are called diploid
organisms because they have two alleles at each genetic locus, with one allele inherited from
each parent. Each pair of alleles represents the genotype of a specific gene. Genotypes are
described as homozygous if there are two identical alleles at a particular locus and as
heterozygous if the two alleles differ. Alleles contribute to the organism's phenotype, which is the
outward appearance of the organism.
Some alleles are dominant or recessive. When an organism is heterozygous at a specific locus
and carries one dominant and one recessive allele, the organism will express the dominant
phenotype. Alleles can also refer to minor DNA sequence variations between alleles that do not
necessarily influence the gene's phenotype.
-An allele is an alternative form of a gene (one member of a pair) that is located at a specific
position on a specific chromosome. These DNA codings determine distinct traits that can be
passed on from parents to offspring. The process by which alleles are transmitted was discovered
by Gregor Mendel and formulated in what is known as Mendel's law of segregation.
Trait:
Is a notable feature or quality in person,each of us have different combinations of traits that make us
unique.traits are passed from generation to generation.we inherit traits from our parents,and we pass
them on to our children.there are different types of traits:
-physical traits.- are characteristics of ones physical make up.these include hair eye color and height.
-Behavioral traits:are the characterostics of the way one acts.A sheedogs herding and a retrievers desire
to fetch is a good example og behavioral trait.
-predisposition to a medical condition.-an increase risk of getting a certain type of disease is also a type of
trait that can be passed from parent to child.some examples such as a disease include sickle cell
anemia,cystic fibrosis,heart disease.
The instructions encoded in our genes play a role in defining traits but the non genetic or environmental
influences in our lives are just as important in shaping our traits.sometimes this environmental factors can
even change a trait.
Punnett square:

The Punnett square is a diagram that is used to predict an outcome of a particular

cross or breeding experiment. It is named after Reginald C. Punnett, who devised
the approach, and is used by biologists to determine the probability of an offspring's
having a particular genotype. The Punnett square is a tabular summary of every
possible combination of one maternal allele with one paternal allele for each gene

being studied in the cross.[1] These tables give the correct probabilities for the
genotype outcomes of independent crosses where the probability of inheriting
copies of each parental allele is independent. The Punnett Square is a visual
representation of Mendelian inheritance.
Dominance:

Dominance in genetics is a relationship between two variant forms (alleles) of a

single gene, in which one allele masks the expression of the other in influencing
some trait. In the simplest case, if a gene exists in two allelic forms (B & b), three
combinations of alleles (genotypes) are possible: BB, Bb, and bb. If Bb individuals
(heterozygotes) show the same form of the trait (phenotype) as BB individuals
(homozygotes), and bb homozygotes show an alternative phenotype, allele (B) is
said to dominate or be dominant to allele (b), and (b) is said to be recessive to (B).

Dominance in genetics is a relationship between alleles of one gene, in which one allele is
expressed over a second allele at the same locus.[1][2] The first allele is dominant and the second
allele is recessive. For genes on an autosome (any chromosome other than a sex chromosome),
the alleles and their associated traits are autosomal dominant or autosomal recessive.
Dominance is a key concept in Mendelian inheritance and classical genetics. Often the dominant
allele codes for a functional protein whereas the recessive allele does not.
A classic example of dominance is the inheritance of seed shape (pea shape) in peas. Peas may
be round (associated with allele R) or wrinkled (associated with allele r). In this case, three
combinations of alleles (genotypes) are possible: RR, Rr, and rr. The RR individuals have round
peas and the rr individuals have wrinkled peas. In Rr individuals the R allele masks the presence
of the r allele, so these individuals also have round peas. Thus, allele R is dominant to allele r,
and allele r is recessive to allele R (this use of upper case for dominant alleles and lower case for
recessive alleles is a widely followed convention).
Recessive:

DOMINANT TRAITS

RECESSIVE TRAITS

eye coloring

brown eyes

grey, green, hazel, blue eyes

vision

farsightedness
normal vision
normal vision
normal vision

normal vision
nearsightedness
night blindness
color blindness*

hair

dark hair
non-red hair
curly hair
full head of hair
widow's peak

blonde, light, red hair

red hair
straight hair
baldness*
normal hairline

facial features

dimples
unattached earlobes
freckles
broad lips

no dimples
attached earlobes
no freckles
thin lips

Haploid:

The nucleus of a eukaryotic cell is haploid if it has a single set of chromosomes, each one not
being part of a pair. By extension a cell may be called haploid if its nucleus is haploid, and an
organism may be called haploid if its body cells (somatic cells) are haploid. The number of
chromosomes in a single set is called the haploid number, given the symbol n.
Gametes (sperm and ova) are haploid cells. The haploid gametes produced by most organisms
combine to form a zygote with n pairs of chromosomes, i.e. 2n chromosomes in total. The
chromosomes in each pair, one of which comes from the sperm and one from the egg, are said to
be homologous. Cells and organisms with pairs of homologous chromosomes are called diploid.
For example, most animals are diploid and produce haploid gametes. During meiosis, sex cell
precursors have their number of chromosomes halved by randomly "choosing" one member of
each pair of chromosomes, resulting in haploid gametes. Because homologous chromosomes
usually differ genetically, gametes usually differ genetically from one another.
All plants and many fungi and algae switch between a haploid and a diploid state, with one of the
stages emphasized over the other. This is called alternation of generations. Most fungi and algae
are haploid during the principal stage of their lifecycle, as are plants like mosses. Most animals
are diploid, but male bees, wasps, and ants are haploid organisms because they develop from
unfertilized, haploid eggs.

Diploid:

Diploid cells have two homologous copies of each chromosome, usually one from
the mother and one from the father. Nearly all mammals are diploid organisms (the
tetraploid (four sets) plains viscacha rats Tympanoctomys barrerae and
Pipanacoctomys aureus[20] are the only known exceptions as of 2004[21]), although all
individuals have some small fraction of cells that display polyploidy. Human diploid
cells have 46 chromosomes and human haploid gametes (egg and sperm) have 23
chromosomes. Retroviruses that contain two copies of their RNA genome in each
viral particle are also said to be diploid. Examples include human foamy virus,
human T-lymphotropic virus, and HIV
Autosomes:

An autosome is a chromosome that is not an allosome (i.e., not a sex chromosome).[1] Autosomes
appear in pairs whose members have the same form but differ from other pairs in a diploid cell,

whereas members of an allosome pair may differ from one another and thereby determine sex.
The DNA in autosomes is collectively known as atDNA or auDNA.[2]
For example, humans have a diploid genome that usually contains 22 pairs of autosomes and one
allosome pair (46 chromosomes total). The autosome pairs are labeled with numbers (1-22 in
humans) roughly in order of their sizes in base pairs, while allosomes are labeled with their
letters.[3] By contrast, the allosome pair consists of two X chromosomes in females or one X and
one Y chromosome in males. (Unusual combinations of XYY, XXY, XXX, XXXX, XXXXX or
XXYY, among other allosome combinations, are known to occur and usually cause
developmental abnormalities.)

sex chromosomes:

sex chromosome, either of a pair of chromosomes that determine whether an

individual is male or female. The sex chromosomes of human beings and other
mammals are designated by scientists as X and Y. In humans the sex chromosomes
comprise one pair of the total of 23 pairs of chromosomes. The other 22 pairs of
chromosomes are called autosomes.
Individuals having two X chromosomes (XX) are female; individuals having one X
chromosome and one Y chromosome (XY) are male. The X chromosome resembles a
large autosomal chromosome with a long and a short arm. The Y chromosome has one
long arm and a very short second arm. This path to maleness or femaleness originates
at the moment of meiosis, when a cell divides to produce gametes, or sex cells having
half the normal number of chromosomes. During meiosis the male XY sex-chromosome
pair separates and passes on an X or a Y to separate gametes; the result is that one-half
of the gametes (sperm) that are formed contains the X chromosome and the other half
contains the Y chromosome. The female has two X chromosomes, and all female egg
cells normally carry a single X. The eggs fertilized by X-bearing sperm become females
(XX), whereas those fertilized by Y-bearing sperm become males (XY).

Replication;

DNA replication is the process of producing two identical replicas from one original DNA
molecule. This biological process occurs in all living organisms and is the basis for biological
inheritance. DNA is made up of two strands and each strand of the original DNA molecule serves
as template for the production of the complementary strand, a process referred to as
semiconservative replication. Cellular proofreading and error-checking mechanisms ensure near
perfect fidelity for DNA replication.[1][2]
In a cell, DNA replication begins at specific locations, or origins of replication, in the genome.[3]
Unwinding of DNA at the origin and synthesis of new strands results in replication forks
growing bidirectional from the origin. A number of proteins are associated with the replication
fork which helps in terms of the initiation and continuation of DNA synthesis. Most prominently,
DNA polymerase synthesizes the new DNA by adding complementary nucleotides to the
template strand.

DNA replication can also be performed in vitro (artificially, outside a cell). DNA polymerases
isolated from cells and artificial DNA primers can be used to initiate DNA synthesis at known
sequences in a template DNA molecule. The polymerase chain reaction (PCR), a common
laboratory technique, cyclically applies such artificial synthesis to amplify a specific target DNA
fragment from a pool of DNA.

Transcription:

Transcription is the first step of gene expression, in which a particular segment of DNA is
copied into RNA by the enzyme RNA polymerase.
Both RNA and DNA are nucleic acids, which use base pairs of nucleotides as a complementary
language. The two can be converted back and forth from DNA to RNA by the action of the
correct enzymes. During transcription, a DNA sequence is read by an RNA polymerase, which
produces a complementary, antiparallel RNA strand called a primary transcript.
http://en.wikipedia.org/wiki/Transcription_(genetics)

translation:

In molecular biology and genetics, translation is the process in which cellular ribosomes create
proteins.
In translation, messenger RNA (mRNA)produced by transcription from DNAis decoded by
a ribosome to produce a specific amino acid chain, or polypeptide. The polypeptide later folds
into an active protein and performs its functions in the cell. The ribosome facilitates decoding by
inducing the binding of complementary tRNA anticodon sequences to mRNA codons. The
tRNAs carry specific amino acids that are chained together into a polypeptide as the mRNA
passes through and is "read" by the ribosome. The entire process is a part of gene expression.
In brief, translation proceeds in three phases:
1. Initiation: The ribosome assembles around the target mRNA. The first tRNA is attached
at the start codon.
2. Elongation: The tRNA transfers an amino acid to the tRNA corresponding to the next
codon. The ribosome then moves (translocates) to the next mRNA codon to continue the
process, creating an amino acid chain.
3. Termination: When a stop codon is reached, the ribosome releases the polypeptide.

In bacteria, translation occurs in the cell's cytoplasm, where the large and small subunits of the
ribosome bind to the mRNA. In eukaryotes, translation occurs in the cytosol or across the
membrane of the endoplasmic reticulum in a process called vectorial synthesis. In many
instances, the entire ribosome/mRNA complex binds to the outer membrane of the rough
endoplasmic reticulum (ER); the newly created polypeptide is stored inside the ER for later
vesicle transport and secretion outside of the cell.
Many types of transcribed RNA, such as transfer RNA, ribosomal RNA, and small nuclear RNA,
do not undergo translation into proteins.

II. Concepts
Complete dominance (red over white)
Incomplete dominance, the genes expressed and effects seen as a "blend", red and white parents
flower color makes pink F1 generations
codominance: as the result of multiple alleles, with dominance, codominance and recessive effects seen
depending on what occurs in the allele makeup of the individual. Seen in blood typing in Humans.
i.e.: A, B AB O
Pleiotropy: one gene influencing multiple repercussions, or factors (effects of sickle cell anemia) page
168
Genetic screening is?
Polygenic inheritance: more than one gene acting together to cause the phenotype response.
Segregation: the separation of homologous chromosomes in Meiosis one, anaphase I
Linked genes are?
Recombination is?

Crossing over is?

Genetic maps are used for?

What is gene distance and what does this have to do with crossing over and how genes assort?
Sex linkage is? Give examples of sex-linked traits, and what are sex linkage vs non-sex-linked effects?
Chp 10 textbook specific:
bacteriophages are? Viruses that exclusively infect bacteria or is called phages for short.(bacteria eaters)

a nucleotide is, the parts of one are? A building block of nucleic acids,consisting of five a five carbon
sugar covalently bonded to a nitrogenous base and one or more phosphate groups.
nucleic acids are?a polymer consisting of many nucleotide monomers,serves as a blueprint for proteins
and,through the actions of proteins,for cellular structures activities.the two types of nucleic acids are DNA
and RNA.
nucleic acids are held together by? Hydrogen bonds

Through covalent and hydrogen bonds. The covalent bonds hold the pentose sugarphosphate backbone together and are alternatively called phosphodiester bonds.
The hydrogen bonds are between the nitrogen bases and hold the "rungs" of the
ladder together.
nitrogenous bases are?

The main biological function of a nitrogenous base is to bond nucleic acids together. A
nitrogenous, or nitrogen-containing, base is an organic molecule with a nitrogen atom that has
the chemical properties of a base. A nitrogenous base owes its basic properties to the lone pair of
electrons of a nitrogen atom.
Nitrogenous bases are typically classified as the derivatives of two parent compounds,
pyrimidine and purine.[1] They are non-polar and due to their aromaticity, planar. Both
pyrimidines and purines resemble pyridine and are thus weak bases and relatively unreactive
towards electrophilic aromatic substitution.[2]

purine vs pyrimidne is?

Pyrimidines
Purines
Production of RNA and DNA, proteins and starches,
the regulation of enzymes and cell signaling.

Production of
RNA and DNA,
proteins and
starches, the
regulation of
enzymes and
cell signaling.

Adenine and guanine

Cytosine,
thymine, uracil

Function

Nucleobases

Pyrimidines

Purines

A pyrimidine ring fused to a imidazole ring. Contains

two carbon-nitrogen rings and four nitrogen atoms.

Contains one
carbonnitrogen ring
and two
nitrogen
atoms.

214 C, 487 K, 417 F

2022 C

Heterocyclic aromatic organic compound

Heterocyclic
aromatic
organic
compound

C5H4N4

C4H4N2

120.11 g mol1

80.088 g mol-1

Purine

Pyrimidine

c1c2c(nc[nH]2)ncn1

C1=CN=CN=C1

A purine is a heterocyclic aromatic organic

compound, consisting of a pyrimidine ring fused to
an imidazole ring.

Pyrimidine is a
heterocyclic
aromatic
organic
compound
similar to
benzene and
pyridine,
containing two
nitrogen atoms
at positions 1
and 3 of the
six-member
ring. It is
isomeric with
two other
forms of
diazine.

120-73-0

289-95-2 Y

Structure

Melting point

Type of Compound

Molecular formula
Molar mass
MeSH
SMILES

Introduction (from
Wikipedia)

CAS number

Pyrimidines

Purines

PubChem
Synthesis in Lab

1044

9260

Traube Purine Synthesis

Biginelli
Reaction

complimentary means?
watson crick, franklin, and wilkins are?
a double helix is/
in 1953 what happened?
why is it so lucky for us multi-celled organisms that DNA's ladder rungs are H bonded?
what is a gene? what is a chromosome?
What is replication, and what is the cenral dogma of biology?
Replication origins are? What are helicases, polymerases, and ligases?
What are transcription and translation? Are they important, and why?