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CHAPTER 5. Genetics: A Review. Mendel’s Investigations. Gregor Johann Mendel (1822-1884) First person to formulate the principles of heredity Mendel chose to work with pure strains of garden peas Ex: dwarf and tall varieties
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CHAPTER 5 Genetics: A Review
Mendel’s Investigations • Gregor Johann Mendel (1822-1884) • First person to formulate the principles of heredity • Mendel chose to work with pure strains of garden peas • Ex: dwarf and tall varieties • The plants were self-fertilizing but subject to experimental cross-fertilization; all using Meiosis to produce sex cells.
Chromosomal Basis of Inheritance • Meiosis: Reduction Division of Gametes • Sex cells (gametes) transmit genetic information from parents to offspring in sexually reproducing organisms • Chromosomes occur in pairs: homologs • One member is donated by the mother, the other by the father • Homologs • Contain similar genes encoding the same set of characteristics • Usually have the same size and shape • Example: Chromosome #6 from mom and #6 from dad
Chromosomal Basis of Inheritance • Meiosis • Special type of nuclear division • Associated with gamete production • Genetic material replicates once followed by 2 successive nuclear divisions • Produces 4 daughter cells (gametes) • Each with only 1 member of each homologous chromosome pair or 1 set of chromosomes (haploid) (Ex. Only one #6 chromosome in each gamete)
Chromosomal Basis of Inheritance • Fertilization • Reestablishes the diploid chromosome number ( Two #6 chromosomes) • Union of egg and sperm produces a zygote
Chromosomal Basis of Inheritance • Meiosis I Prophase I • The two members of each pair of homologs make side-by-side contact • 4 homologous chromosomes lined up is called a tetrad • Homologs cross-over and exchange genetic information to increase variation in animals
Chromosomal Basis of Inheritance Metaphase I • Homologs line up side by side on the metaphase plate Anaphase I • Homologs are separated and moved to opposite poles of cell
Chromosomal Basis of Inheritance Telophase I • Nuclear membrane forms around separated homologs • Each of these cells (now haploid) enter Meiosis II • No interphase between Meiosis I and Meiosis II.
Chromosomal Basis of Inheritance • Meiosis II Prophase II • No crossing-over occurs Metaphase II • All chromosomes line up single file at metaphasic plate
Chromosomal Basis of Inheritance Anaphase II • Centromeres of dyads are replicated and single-stranded chromosomes move toward each pole Telophase II • Nuclear membrane forms around separated chromosomes • Each daughter cell contains one complete haploid set of chromosomes
Chromosomal Basis of Inheritance • Sex Determination in Humans • 46 chromosomes (23 pair) in somatic cells • Pairs 1-22: Autosomes (do not determine sex) • Pair 23: Sex Chromosomes (determine sex) • Two sex chromosomes: X, Y • Males: XY Females: XX Some animals Male is X0 and female is XX (there is no Y chromosome)
Some animals, the absence of a 2nd sex chromosome leads to a male.
In most animals, an XX or XY distribution determines sex.
Mendelian Laws of Inheritance • Mendel’s First Law • The Law of Segregation: • In the formation of gametes (Meiosis), homologous chromosomes separate so that each gamete receives only one member of the pair.
Mendelian Laws of Inheritance • Testcross - (Punnett Square Used) • A testcross is performed to determine the genotype • Crossing an individual of unknown genotype with a homozygous recessive individual
Mendelian Laws of Inheritance • Intermediate Inheritance - (Incomplete Dominance) • Neither allele is completely dominant over the other • The heterozygous phenotype is distinct from those of the parents, often intermediate between them • Ex. Red and White flower = Pink flower • Codominance - Both dominant traits expressed (Ex - white/black spotted cow)
Intermediate Inheritance or Incomplete Dominance
Mendelian Laws of Inheritance • Mendel’s Second Law • Genes located on homologous chromosomes assort independently during meiosis • Pertains to studies of 2 pairs of hereditary factors at the same time • Ex. Pea plant - color and pod size combinations can occur (Yt, YT, yT, yt)
Mendelian Laws of Inheritance • Multiple Alleles • Individuals can have no more than 2 alleles at a given locus (designated sight on chromosome) • Ex: • Freckles • Human ABO blood groups
Mendelian Laws of Inheritance • Gene Interaction • Many different genes can affect a single phenotype: polygenic inheritance • Epistasis: Allele at one locus can mask or prevent the expression of an allele at another locus acting on the same trait • Quantitative inheritance: Characters show variation of 2 extremes (Ex. Skin pigmentation)
Mendelian Laws of Inheritance • Sex-Linked Inheritance • Traits specified by genes located on sex chromosomes • X – Linked Traits • Most sex-linked traits are X-linked • Genes located on the X sex chromosome. • Ex: Red – Green Color Blindness Hemophilia
Blue 1/2 arrow = Y No trait carried on Y Sex-linked Trait
Mendelian Laws of Inheritance • Autosomal Linkage • Genes on the same chromosome • Said to be linked • Tend to be inherited together • However, linkage groups may be broken up during meiosis (crossing over) • distance between the 2 loci, probability that alleles will be inherited together • distance between the 2 loci, probability that alleles will be inherited together.
Mendelian Laws of Inheritance • Chromosomal Abnormalities • 5 out of every 1000 humans are born with serious genetic defects attributable to chromosomal anomalies • Changes in chromosome number • Monosomy, Trisomy
Mendelian Laws of Inheritance • Euploidy • Addition or deletion of whole sets of chromosomes • Polyploidy • Most common type of euploidy • The carrying of 3 or more sets of chromosomes by an organism • More common in plants than animals
Mendelian Laws of Inheritance • Changes in Chromosome Structure • Inversion • Portion of a chromosome reversed • Deletion • Entire blocks of genes lost • Translocation • Nonhomologous chromosomes exchange sections • Duplication • Extra section of chromosomes attached
Gene Theory GENE: Nucleotide sequence that encodes a functional polypeptide or RNA sequence
Sources of Phenotypic Variation • Frequency of Mutations • Mutation rate for humans • About every third person carries approximately one new mutation • Although most mutations are harmful, most are recessive and not expressed