a.     A lineage of genetically identical individuals or cells

a.     Ordered display of homologous chromosomes or homologs

     Same length, same centromere position, staining pattern, same loci

  Diploid product of the union of haploid gametes; Fertilized egg     Distinguishing Concepts

a.     Heredity vs. Hereditary Variation

                                               i.     Heredity-Transmission of bio traits from one generation to the next

                                             ii.     Hereditary Variation-Differences between members of same species

                                               i.     Genes-Program cells to synthesize proteins; Produce bio traits

                                             ii.     Genome-An organism’s entire complement of DNA

    Gametes vs. Somatic Cells

                              i.     Gametes-A haploid reproductive cell, such as an egg or sperm

                                      ii.     Somatic Cells-Any cell in a multicellular organism except an egg or sperm

     Haploid Cell vs. Diploid Cell

                                               i.     Haploid Cell-A cell containing only one set of chromosomes (n)

a.     Autosomes and Sex Chromosomes

                                               i.     Autosomes-A chromosome that is not directly involved in determining sex

                                             ii.     Sex Chromosome-A sex chromosome responsible for determining the sex of an individual

1 Parent

Genomes of parent & offspring are exact copies

Genetic products Produced Clone 

Source of Genetic Variation :only mutation 

Half of each parents Genes

Genetic Product:Genetically Unique offspring 

Source of Genetic Variation :Mutations & Sexual Mechanisms

     Chromosomes are usually photographed in the preparation of a human karyotype during the metaphase stage of Mitosis.  Karyotyping can screen for abnormal numbers of chromosomes or defective chromosomes associated with some disorders.

Chromosome sets : 2 Diploid

Haploid/Diploid : 2n

Autosmes + Chromosomes : 22 pairs + 2 = 46

Mitosis/Meiosis : Mitoisis 

Animal 

Gametes are the only Haploid cells

1. Diploid Multi cellular 

2. Haploid Gametes 

3.Zygote 

These Organisms have both multicellular and Haploid and Diploid stages in this type of Sexual life cycle?

Plants 

1. Diploid muliticellular Organism ( sporophyte)

2. Meiosis develope Haploid spores

3.Haploid Multicellular organism (Gametophyte ) 

4. Mitosis develop haploid Gametes 

The Only Diploid Stage in organisms that have this type of sexual life cycle is the Single celled Zygote ?

The X-shaped visible region where non-sister chromatids have exchanged genetic information

Maternal and paternal homologs sorted independent of every other pair

   A change in the nucleotide sequence of an organism’s DNA, ultimately creating a genetic diversity

     Any of the alternative versions of a gene that produce distinguishable phenotypic effects

1.     Synapsis and Crossing Over occur during Prophase I; Chromosomes line up at the metaphase plate during Metaphase I; Replicated chromosomes separate and move towards opposite poles during Anaphase I

2 to the power of 23 

8.4 million possible combinations 

What are four characteristic features of Garden Peas that made them such a good choice for use in Mendels carefully planned breeding Experiments ?

1.     Garden Peas features:  Many varieties, short generation time, number of offspring, control matings

                                               i.     Character-Heritable feature, varies among individuals

                                             ii.     Trait-Variant for a character

 Dominant Trait vs. Recessive Trait

                                               i.     Dominant Trait-Expressed in F₁ (Heterozygotes) Dominant allele (determines apperance)

                                             ii.     Recessive Trait-Not expressed in F₁

recessive allele ( no affect on the apperance )

     Phenotype and Genotype

                                               i.     Phenotype-Appearance or observable traits (PP or Pp and still have the same Phenotype )

                                             ii.     Genotype-Genetic makeup

(Genotype is PP, Pp ,pp )

   Monohybrid Cross vs. Dihybrid Cross

                                               i.     Monohybrid Cross-Cross between F₁ heterozygous for one character → Derived Law of Segregation

                                             ii.     Dihybrid Cross-Between F₁ heterozygous for two characters → Derived Law of Independent Assortment

a.     Homozygous Dominant, Homozygous Recessive, and Heterozygous

                                               i.     Homozygous Dominant-Two dominant alleles (AA)

                                             ii.     Homozygous Recessive-Two recessive alleles (aa)

                                            iii.     Heterozygous-Has two different alleles for a given gene or character

1.     Laws and Derivations

a.     Law of Segregation-Thus each gamete gets only one of two alleles in the somatic cells

                                               i.     Derived from monohybrid cross

b.     Law of Independent Assortment-Each pair of alleles separates independently during gametes formation

                                               i.     Derived from dihybrid cross

1.     Punnett square predicts 4 phenotype categories with 16 different combinations of gametes

1.     Complete Dominance produces a 3:1 phenotype ration and a 1:2:1 genotype ration in F₂ Generation.  Incomplete Dominance produces 1:2:1 phenotypic ratio and genotypic ratio in F₂ Generation.

1.     Testcross can reveal an unknown genotype of the organism.  If all offspring exhibit dominant trait then unknown genotype = homozygous dominant.  If ½ dominant and ½ recessive traits, then unknown genotype = heterozygous.

Complete dominance, Incomplete Dominance, and Codominance with regard to how the phenotypes of their F1 heterozygotes differ from one another ?

1.     Complete dominance = 3:1 phenotype, Incomplete dominance = 1:2:1 phenotype, and Co-Dominance = Phenotypes of both alleles are exhibited.

a.     Most genes exist in more than two allelic forms

a.     Single gene produces multiple phenotypic effects

a.     Gene at one locus alters phenotype of gene at a second locus

     Additive effect of two or more genes on single character

  Multiple Alleles of a Single Gene account for Blood Type; Two Hereditary Diseases caused by Pleiotropic Alleles include cystic fibrosis and sickle-cell disease; One example of Epistasis common in many mammals is Black Coat Color in rats

    Most common lethal genetic disease in U.S.

     Lethal dominant allele that has no obvious phenotypic effect until the person is about 35 to 45 years old

  Cannot metabolize amino acid Phenylalanine causing Mental Deficiency

     Amniocentesis-14^th to 16^th week of pregnancy; Amniotic fluid and cultured fetal cells tested ( karyotyping and Biochemical tests)

     Chorionic Villus Sampling (CVS)-8^th to 10^th week of pregnancy; Only fetal cells tested ( only kyrotyping )

1.     The Law of Segregation is based on the separation of homologs in Anaphase I.  The Law of Independent Assortment is based on organization of non-homologs in Metaphase I.

1.     Features of Drosophila Melanogaster that make them such a good experimental organism for genetic studies include:  prolific breeders, 2 week generation, 4 chromosome pairs (LM), size, and diet.  Fruit Flies normally feed on fungi that grow on fruit.

Wild Type vs. Mutant Phenotypes

                                               i.     Wild Type-Phenotype for a character most commonly observed in natural pop

                                             ii.     Phenotypes-Alternative traits to wild type

  Parental Types vs. Recombinant Types

                                               i.     Parental Types-Offspring’s phenotype matches one of the parental phenotypes

                                             ii.     Recombinant Types-Offspring’s phenotype differs from that of the parents

    Linked Genes vs. Unlinked Genes

                                               i.     Linked Genes-Genes located close enough together on a chromosome that they tend to be inherited together

                                             ii.     Unlinked Genes- 

Genetic Map vs. Linkage Map

                                               i.     Genetic Map-Ordered list of genes on a particular chromosome

                                             ii.     Linkage Map-Genetic map based on frequencies of recombination

 Humans and other Mammals

                                               i.     XX=Female, XY=Male

     Grasshoppers, Cockroaches, and Some Other Insects

                                               i.     XX=Female, XO=Male

Birds and Some Fishes

                                               i.     ZZ=Males, ZW=Female

Most Species of Bees and Ants

Located oon Y, and the function is the development of testes.1.     XIST Gene is active only on the Barr Body Chromosome; Initiates X Inactivation

1.     Human males inherit their sex-linked recessive traits from the Female Parent.  A hemizygous Human Father can pass on his sex-linked recessive allele for Color Blindness, Duchenne Muscular Dystrophy, or Hemophilia to 100% of his daughters.

Aneuploidy vs. Polyploidy

                                               i.     Aneuploidy-Abnormal number of a particular chromosome

                                             ii.     Polyploidy-More than two complete chromosome sets

     Monosomy vs. Trisomic

                                               i.     Monosomy-Only one copy of a particular chromosome (2n-1)

                                             ii.     Trisomic-Three copies of a particular chromosome (2n+1)

  Triploidy vs. Tetraploidy

                                               i.     Triploidy-3n

                                             ii.     Tetraploidy-4n

a.     Deleted” fragment rejoins original chromosome in reverse order

Chromosome transfers a fragment without receiving a fragment

  Genomic Imprinting is when the phenotype effects depend on which parent transmits allele.  This takes place in the Mitochondria, Chloroplasts, and Other Plastids.

Frederick Griffith

    Developed the theory of transformation when studying streptococcus pneumonia

Oswald Avery, Maclyn McCarty, and Colin MacLeod

The transforming agent was DNA

DNA is the genetic material of a phage known as T2 

they found this by taging the DNA molecule with radio active material 

     A=30.3%, T=30.3%, G=19.5%, and C=19.5% bases in DNA.

      5’ and 3’ refer to numbers assigned to carbons in the sugar.  5’ end has phosphate group attached. 3’ end has hydroxyl group attached.  Nitrogenous Bases are held together by Hydrogen Bonds.

     Antiparallel Strands vs. Complementary Strands

                                                   Antiparallel Strands-The opposite arrangement of the sugar-phosphate backbones in a DNA double helix

                                                Completmentary Strands-A double stranded DNA molecule made in vitro using mRNA as a template and the enzymes reverse transcriptase and DNA polymerase.

                                               i.     Origins of Replication-Sites where DNA replication begins

                                                  Replication Bubbles-Expand as replication proceeds in both directions

                                                 Replication Forks-Y-Shaped region where parent DNA strands are unwound

Mismatch Repair vs. Nucleotide Excision Repair

                                               i.     Mismatch Repair-Enzymes remove and replace incorrectly paired nucleotides

                                             ii.     Nucleotide Excision Repair-Nucleases cut out damaged or incorrectly paired region of DNA

    Unwinds and separates parental DNA strands at replication forks

    Stabilizes the unpaired parental DNA strands

   Relieves strain ahead of replication forks

    Synthesizes RNA primers; Uses parental DNA strands as templates

A. sythesizing Continuously

B. Enlongated towards replication forks

c. Direction is 5 to 3 for entire strand

d Requires only one primer

A. Synthesizing Discontinually 

b. Enlongated away from replication forks

c. Direction is 5 to 3 for each okazaki fragment

d. Each okazaki fragment requires a primer

1.     Approximately 6 Billion Base Pairs are contained within each Human Somatic Cell.  It takes hours for the Human Somatic Cell to copy all of this DNA.  The approximate Error Rate after it is completely replicated is 1 in 10 billion./

1.     Telomeres are repetitive, non-coding nucleotide sequences at ends of DNA.  Telomeric DNA protects a eukaryotic organism’s genes.  Telomeres become shorter during repeated DNA replications.  May limit the number of somatic cell divisions and contribute to aging process.  Telomerase is the enzyme that catalyzes the lengthening of Telomeres. (active in germ cells )

1.     Transcription is the synthesis of any type of RNA using a DNA template, it occurs in the nucleus.  Translation is the synthesis of a polypeptide or protein under the direction of mRNA, it takes place within ribosomes. The information content of genes is carried along the strands of DNA in a sequence of nucleotides.

1.     Most abundant type of cellular RNA is mRNA and tRNA contains the anticodon.

    Both catalytic (ribozyme) and structural roles in spliceosomes

Proteins serve as the link between an organism’s genotype and its phenotype.  Number of nucleotides in mRNA is 3x the number of amino acids in protein product

      mRNA molecule could make same protein anywhere with the genetic code being nearly universal.  64 total codons, 61 specify amino acids.  AUG Codon signals for the “start” function. 

     Redundancy vs. No Ambiguity

                                               i.     Redundancy-Multiple codons for same Amino Acid

                                             ii.     No Ambiguity-Each codon only for one Amino Acid, no others

a.     Codon vs. Anticodon

                                               i.     Codon-Sequence of 3 nucleotides along mRNA molecule

                                             ii.     Anticodon-Complimentary nucleotides to the codons

                                               i.     RNA Processing-Alteration of pre-mRNA ends and splicing of molecule

                                             ii.     RNA Splicing-­Removal of introns and joining of exons

                                               i.     Introns-Long segments of non-coding base sequences; Are not translated

                                             ii.     Exons-Codon regions; Are translated

   Silent Mutation vs. Missense Mutation

                                               i.     Silent Mutation-One codon changed into another but specifies same amino acid; redundancy

                                             ii.     Missense Mutation­-Results in codon that specifies a different amino acid

     Nonsense Mutation vs. Frameshift Mutation

                                               i.     Nonsense Mutation­-Changes codon for an amino acid into a stop codon

                                             ii.     Frameshift Mutation-Changes the reading frame on the mRNA

    An RNA molecule that functions as an enzyme, catalyzing reactions during RNA splicing

   Groups of ribosomes attached to and translating the same mRNA

  Physical and Chemical agents that cause mutations

a.     Promoter: 3 functions

                                               i.     Determines DNA template strand

                                             ii.     Where transcription of gene begins

                                            iii.     Where RNA Polymerase attaches

                                               i.     Aid transport from nucleus

                                             ii.     Ribosome attachment to 5’ end

                                            iii.     Prevent its degradation

a.     Introns and RNA Splicing: 3 functions

                                               i.     Some introns regulate gene activity

                                             ii.     Splicing process is necessary for export of mRNA

                                            iii.     Alternative RNA Splicing