Nucleotide consists of a 5-carbon sugar (pentose), phosphate group, and nitrogenous base

Sugar (pentose), phosphate group, and nitrogenous base what constitutes a

nucleotide?

Nucleotide what is the basic building block of nucleic acids?

nucleic acids A nucleotide is the basic building block of?

Adenine and guanine DNA purines

Thymine and cytosine DNA pyrimidines

Adenine and guanine RNA purines

Uracil and cytosine RNA pyrimidines

2 How many hydrogen bonds bet A-T?

2 How many hydrogen bonds bet A-U?

3 How many hydrogen bonds bet C-G?

Double, helical DNA is ____-stranded and _____

Single RNA is _____-stranded.

mRNA, tRNA, rRNA 3 types of RNA

Central dogma process in which the instructions in the DNA are converted into a final
product

Replication-transcription-translation General overview of the process in central dogma

(x-x-x-x-x)

DNA-mRNA-protein General overview of the products in central dogma (x-x-x-x-x)

Deoxyribose (H) Sugar molecule in DNA (+)

Ribose (OH) Sugar molecule in RNA (+)

mRNA the most important RNA molecule

mRNA responsible for being translated/coded into amino acids that make up proteins
DNA replication it is a semi-conservative process in the central dogma

semi-conservative (1 old DNA + 1 new DNA) DNA replication is a __________ process

(x+x)

5’ to 3’ what is the direction of DNA replication based on the new strand?

New DNA replication is always 5’ to 3’ based on the ___ strand

Leading Leading or lagging strand: continuous synthesis

Lagging strand Leading or lagging strand: discontinuous synthesis

Lagging strand Leading or lagging strand: results in Okazaki fragments

Helicase enzyme responsible for unzipping the parent DNA

SSBP enzyme responsible for preventing the unwound DNA from closing

Topoisomerase enzyme responsible to precent DNA coiling

Primase enzyme responsible as an RNA primer

DNA polymerase enzyme responsible for synthesizing nucleotides

DNA ligase enzyme responsible for connecting Okazaki fragments

DNA exonuclease enzyme responsible for removing nucleotides

DNA replication What process in the central dogma is DNA polymerase actively found?

Transcription What process in the central dogma is mRNA polymerase actively found?

Transcription DNA to mRNA

TATA box What is the promoter region in the transcription start site?

TATA box a region necessary for the mRNA to know where it would start transcribing

TATA box a region in the DNA before the actual part being transcribed

Coding strand contains the “code” - the same base sequence as the RNA except for T/U

Coding strand mirrors the new mRNA except T/U

Coding strand the opposite DNA strand

False True or False: the coding strand is the mRNA

True True or False: the coding strand has the same nucleotide sequence as RNA except T/U

True True or False: the template strand is the original or parent strand

Template strand the one being read to synthesize the mRNA

Template strand it is the basis of transcription

Template strand it is also called the noncoding strand

noncoding strand The template strand is also called the?

coding strand nontemplate strand is also referred to as the?

nontemplate strand it is also referred to as the coding strand

ribosomes location of the translation process

splicing, capping, addition of polyA tail list down the mRNA processing steps necessary
before the mRNA is able to exit the nucleus and go to the ribosomes for translation

splicing removal of the noncoding regions of the DNA

exons exons or introns: portion of a gene that is transcribed and translated

introns exons or introns: portion of a gene that transcribed but not translated

introns exons or introns: portion of a gene that does not code for amino acids

exons exons or introns: part of the gene sequence that is expressed in the protein

spliceosomes Introns in protein coding genes are removed by?

False True or false: Exons can be considered as intervening sequences

False True or false: Introns are considered as expressed sequences

Capping addition of a 7-methylguanosine to the head part to protect the mRNA transcript

Exons exons or introns: retained in the mature mRNA

Introns exons or introns: the portion that is removed

7-methylguanosine During capping, what is added to the head portion of the mRNA that
protects the mRNA transcript?

Stability The addition of a PolyA tail provides ______.

PolyA tail The addition of a ________ provides stability to the mRNA.

Translation mRNA to amino acids

initiation-elongation-termination Stages of translation (x-x-x)

Initiation in this stage of translation, the ribosome gets together with the mRNA and the
first tRNA so translation can begin.

Elongation in this stage of translation, amino acids are brought to the ribosome by tRNAs
and linked together to form a chain.

Termination in this stage of translation, the finished polypeptide is released to go and do its
job in the cell.

Aminoacyl site, peptidyl site, exit site three tRNA binding sites found in ribosomes (x, x,
x)

616161 There are _____ different codons for amino acids.

tRNAs In translation, the codons of an mRNA are read in order (from the 5' end to the 3'
end) by molecules called?

Anticodon, amino acid Each tRNA has a/an ________, a set of three nucleotides that
binds to a matching mRNA codon through base pairing. The other end of the tRNA carries the
_______ that's specified by the codon. (x, x)

Anticodon a set of three nucleotides that binds to a matching mRNA codon through base
pairing.

AUG Start codon

Methionine AUG or ______ is the start codon

UAG, UGA, UAA Stop codons

AUG Methionine
Wobble position In a codon, the third position is referred to as the?

3rd In a codon, what position (1st, 2nd, 3rd) is the wobble position?

Codon degeneracy In codons, this means that the 3 rd or wobble position can change but still
produce the same amino acid.

Codon degeneracy _______ _________ means that there is more than one codon that
specifies the single amino acid.

Codon degeneracy The phenomenon in which several of the amino acids, each coded by
more than one codon is called?

tRNA carries the amino acids in the anticodon that correspond to the code

A What is the anticodon corresponding to the codon GUA? A. CAU B. UTC C. UAC D. AUG

C Which of the following is NOT a necessary step in mRNA processing before the mature
mRNA can exit the nucleus and proceed to translation? A. Addition of Poly-A tail B. Capping
with 7-methylguanosine C. Removal of exons D. Removal of introns

Gene mutations affect the sequences of nucleotide bases

nucleotide bases Gene mutations affect the sequences of ______ ______

Wild type normal, non-mutated form of a gene and corresponding phenotype

Variants refer to mutated genes and corresponding mutated manifestations

Loss-of-function mutation that results in the gene product having less or no function
(being partially or wholly inactivated.

inactivating mutations Loss-of-function mutations are also called?

Gain-of-function mutation that changes the gene product such that its effect gets stronger
(enhanced activation) or even is superseded by a different and abnormal function.

activating mutations Gain-of-function mutations are also called?

suppressor mutation a second mutation that alleviates or reverts the phenotypic effects of an
already existing mutation in a process defined synthetic rescue.
suppressor mutation a mutation that nullifies the first mutation; a second mutation is able to
affect the first mutation

Point mutation mutation which involves base substitution

Point mutation mutation which involves a change in one nitrogenous base

Missense mutation mutation wherein the resulting protein or amino acid changes

Missense mutation an example of this mutation is a change in the first position of a codon

Nonsense mutation mutation wherein a change in the codon makes it a stop codon

Silent mutation mutations in DNA that do not have an observable effect on the
organism's phenotype

Silent mutation the mutation affects the 3rd position of a codon and the amino acid stays
the same

Silent mutation the mutation does not change the amino acid

Neutral mutation mutation that affects the non-coding DNA

Neutral mutation mutation that affects the introns

False True or false: Neutral mutation affects the exons.

Transition mutation wherein a pyrimidine replaces a pyrimidine or a purine replaces purine

Transversion mutation opposite to transition

Transversion mutation wherein a pyrimidine replaces a purine or a purine replaces pyrimidine

Transition What mutation is this: AG?

Transversion What mutation is this: TA?

Transition interchange of purines (A-G) or pyrimidines (C-T)

Transition mutation which involves bases of similar shape are called?

Transversion interchange between purine and pyrimidine bases

Transversion mutation which involves exchange of one-ring and two-ring structures

Frameshift mutation mutation wherein the entire reading of the code changes
Frameshift mutation a genetic mutation caused by indels of a number of nucleotides in a DNA
sequence that is not divisible by three.

Frameshift mutation a genetic mutation caused by a deletion or insertion/addition in a DNA

sequence that shifts the way the sequence is read.

Allele a variation or a variant characteristic of certain gene

Allele is one of two or more versions of a gene.

Allele A/An _____ is a term coined to describe a specific copy of a gene.

DNA Genes are made up of?

Gene a specific segment that codes for a trait

Gene The basic biological unit of heredity.

Genes _____ are a set of instructions that determine what the organism is like, its
appearance, how it survives, and how it behaves in its environment.

Genes _____are segments of deoxyribonucleic acid (DNA) that contain the code for a
specific protein that functions in one or more types of cells in the body.

Chromosomes ______ are structures within cells that contain a person's genes.

Chromosomes Genes are contained in _________, which are in the cell nucleus.

Nucleus Genes are contained in chromosomes, which are in the cell _____.

Genome the entire genetic material of an organism

Chromosomal aberrations affect certain segments of the chromosome, not individual

nucleotide bases.

False True or false: Mutations affect nucleotide bases.

Recombination Chromosomal aberrations arise during?

Meiosis Recombination takes place during MITOSIS/MEIOSIS.

Recombination In meiosis, this occurs when two molecules of DNA exchange pieces of
their genetic material with each other.

Chromosomal aberrations changes to the structure or number of chromosomes

Chromosomal aberrations changes to the chromosome structure or number

Aneuploidy Numerical aberrations, changes to the number of chromosomes present, are

referred to as?

Deletion This chromosomal abnormality occurs when a portion of the chromosome is

deleted, or taken out, which can make that chromosome less functional.

Deletion Cri-du-chat syndrome is an example of what type of chromosomal abnormality?

Duplication This chromosomal abnormality occurs when a part of the chromosome is

duplicated, resulting in extra genetic material.

Duplication Charcot-Marie-Tooth disease type I is an example of what type of chromosomal

abnormality?

Inversion This chromosomal abnormality happens when the genetic material is inverted,
or flipped in the opposite direction.

True True or false: Inversions do not often result in disease.

2 Inversions most commonly affect what chromosome #?

Translocation This chromosomal abnormality occurs when a piece of one chromosome has
broken off from its original location and attached to another chromosome.

Aneuploidy abnormal number of chromosomes in a cell.

46 chromosomes (23 pairs) Normal number of chromosomes in humans (# of pairs)

Translocation This chromosomal abnormality occurs when a piece of one chromosome

has broken off & attached to another chromosome

Translocation This chromosomal abnormality is a potential cause of trisomies

Trisomy 21 Down syndrome

Trisomy 18 Edwards syndrome

Trisomy 13 Patau syndrome

Genotype XXY Klinefelter syndrome

Genotype X Turner syndrome

Trisomy 21 Down syndrome

Trisomy 18 Edward syndrome

Trisomy 13 Patau syndrome

Klinefelter syndrome Genotype XXY

Turner syndrome Genotype X

B During DNA replication, a mutation arose, changing adenine in the original, correct
strand to guanine in the replicated, but mutated strand. What type of point mutation is this? A.
Substitution B. Transition C. Transversion D. Missense mutation

Law of dominance, law of segregation, law of independent assortment Mendelian

inheritance refers to an inheritance pattern that follows what (3) laws?

Law of dominance This states that in a heterozygote, one trait will conceal the presence of
another trait for the same characteristic.

Law of dominance This states that when a dominant and recessive allele pair up in one trait,
only the dominant trait shows in the phenotype.

Genotype GENOTYPE or PHENOTYPE: genetic makeup

Genotype GENOTYPE or PHENOTYPE: genetic characteristics

Phenotype GENOTYPE or PHENOTYPE: morphological manifestations

Phenotype GENOTYPE or PHENOTYPE: physical characteristics

Phenotype GENOTYPE or PHENOTYPE: observable traits

Homozygous Individuals carrying two identical alleles are known as?

Heterozygous Individual organisms bearing different alleles are known as?

Homozygous HOMOZYGOUS OR HETEROZYGOUS: (RR or rr)

Heterozygous HOMOZYGOUS OR HETEROZYGOUS: (Rr)

Dominant allele variation of a gene where one copy is sufficient to manifest the
phenotype

Recessive allele variation of a gene that is masked

Recessive allele variation of a gene that must be homozygous when inherited to be

expressed in the phenotype

Homozygous Recessive alleles must be _______ when inherited to be expressed in the

phenotype.

Law of segregation this states that each member of the gene pair separates during gamete
formation

Law of segregation this states that traits are passed down with equal probability

Law of segregation this states that each individual that is a diploid has a pair of alleles (copy)
for a particular trait.

Law of segregation It is also called the first law of inheritance.

Law of segregation this states that two copies of each genetic factor segregate during the
development of gametes, to ensure that each parent’s offspring attains one factor.

Law of segregation this states that During the development of the gamete, each gene is
segregated in such a way that the gamete consists of just one allele for that gene.

Law of segregation this states that copies of a gene are segregated when any individual
produces gametes so that each gamete accepts only one copy.

Law of segregation this states that there is an equal chance for the gamete to receive the
dominant allele and recessive allele

False True or False: A gamete receives two alleles.

Law of independent assortment this states that genes on different chromosomes behave
independently

Law of independent assortment this states that genes on different chromosomes do not
influence each other’s characteristics
Law of independent assortment this states that the inheritance of 1 gene or trait will not
affect the inheritance of another

Mendelian inheritance Mendel’s Principles of Heredity

C Alleles assort independently into the newly formed gametes A. Law of Segregation B.
Law of Dominance C. Law of Independent Assortment

A Gene variants A. Alleles B. Gametes C. Diploid

B Form a zygote at fertilization A. Alleles B. Gametes C. Diploid

C Having two sets of chromosomes A. Alleles B. Gametes C. Diploid

B The alleles of a Mendelian trait segregate during __________. A. Mitosis B. Meiosis C.

Cell division

C Mendel's law of segregation is also called __________. A. Law of Independent

Assortment B. Law of Dominance C. Law of Purity of Gametes

A In Mendelian inheritance, the allele that is expressed is described as __________. A.

dominant B. recessive C. codominant

A Mendel's law of segregation occurs during __________. A. anaphase B. metaphase C.

telophase

A The separation of allele pairs. A. Segregation B. Dominance C. Independent assortment

9:3:3:1 Mendel’s dihybrid ratio (F2 phenotype)  D+D : D+R : R+D : R+R

Non-mendelian inheritance Multiple alleles, incomplete dominance, codominance, and

polygenes are all examples of?

A three or more possible alleles for a given trait A. Multiple alleles B. Incomplete
dominance C. Codominance D. Polygenes

B blending of characteristic A. Multiple alleles B. Incomplete dominance C. Codominance

D. Polygenes

B no type is dominant over the other A. Multiple alleles B. Incomplete dominance C.

Codominance D. Polygenes

C both characteristics are expressed/observable at the same time A. Multiple alleles B.

Incomplete dominance C. Codominance D. Polygenes
D two or more genes influence a given trait A. Multiple alleles B. Incomplete dominance C.
Codominance D. Polygenes

D a gene whose individual effect on a phenotype is too small to be observed, but which
can act together to produce an observable variation A. Multiple alleles B. Incomplete
dominance C. Codominance D. Polygenes

B This type of relationship between alleles, with a heterozygote phenotype intermediate

between the two homozygote phenotypes, is called? A. Multiple alleles B. Incomplete
dominance C. Codominance D. Polygenes

C both alleles are simultaneously expressed in the heterozygote. A. Multiple alleles B.

Incomplete dominance C. Codominance D. Polygenes

Incomplete dominance Pattern of heredity in which one allele is not completely dominant
over another

Codominance Pattern of heredity in which both alleles are simultaneously expressed in the
heterozygote

Multiple alleles A gene that is controlled by more than two alleles

Pleiotropy When one gene affects multiple characteristics

Pleiotropy occurs when one gene influences two or more seemingly unrelated phenotypic
traits.

Lethal allele Allele that results in the death of an individual

Polygenic trait Traits that are controlled by multiple genes

Incomplete dominance Two alleles may produce an intermediate phenotype when both
are present, rather than one fully determining the phenotype.

Incomplete dominance The snapdragon plant is an example of this pattern of heredity.

Codominance Two alleles may be simultaneously expressed when both are present, rather
than one fully determining the phenotype.

Pleiotropy Some genes affect many different characteristics, not just a single characteristic.

Lethal alleles Some genes have alleles that prevent survival when homozygous or
heterozygous.
Polygene this pattern of heredity states that traits often form a phenotypic spectrum
rather than falling into clear-cut categories.

Some people confuse pleiotropy and polygenic inheritance.

Pleiotropy when one gene affects multiple characteristics

Polygene when one trait is controlled by multiple genes

Pleiotropy PLEIOTROPY OR POLYGENE: when one gene affects multiple characteristics

Pleiotropy PLEIOTROPY OR POLYGENE: when one gene affects multiple traits

Polygene PLEIOTROPY OR POLYGENE: when one trait is controlled by multiple genes

codominance neither allele is dominant over the other, so both will be expressed equally in the
heterozygote

incomplete dominance CODOMINANCE OR INCOMPLETE DOMINANCE: there is an

intermediate heterozygote

codominance CODOMINANCE OR INCOMPLETE DOMINANCE: essentially means that no allele

can block or mask the expression of the other allele. On the other hand,

incomplete dominance CODOMINANCE OR INCOMPLETE DOMINANCE: a condition in

which a dominant allele does not completely mask the effects of a recessive allele

codominance, multiple alleles The human ABO blood group system exhibits _____ and
_____ as its patterns of heredity.