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Mutations changes in the genetic material that are heritable and essentially permanent 1.

Chromosomal Mutations *genome complete set of chromosomes in a cell e.g Humans 2n=46=2x n=23 chromosome sex chromosome x 1 2 3 22 Y x 1 2 3 22 x *true diploids 2x, 2n *autopolyploids -autotetraploids *allopolyploids -allohexaploids e.g. wheat 6x=42=2n n=21 A1A2A7 A1A2A7 B1B2B7 B1B2B7 D1D2D7 D1D2D7

a. Euploidy involves changes in the number of whole sets of chromosomes Euploidy Diploid [e.g (2n=8=2x)(n=4)] Monoploidy(x) Triploidy (3x) Chromosome Composition A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 A1A2A3A4 Synapsis Bivalents (II) Univalents only (I) Trivalents (III) Univalents (I) + Bivalents (II) Univalents (I) Quadrivalents (IV) Bivalents (II) Trivalents (III) + Univalents (I) Univalents (I) Bivalents (II) Segregation at Anaphase I Regular Irregular Irregular Cytological Structures Gametes Fertile Laggards (at Anaphase I) Laggards (at Anaphase I) Chains (at Diakinesis) Laggards (at Anaphase I) Chains, and Rings (at Diakinesis) None but during diakinesis more bivalents will be observed Sterile Sterile (some gametes will be Fertile) Fertile (some gametes will be Sterile)

Autotetraploid (4X)

Irregular (III + I, I)

Allotetraploid (4X)



Problem Solving: A. Situation 1: Gene is located near the centromere -RANDOM CHROMOSOME SEGREGATION A a A a 1 AA 4 Aa 1 aa AAaa x AAaa 1 AA 1 AAAA 4AAAa 1AAaa 4 Aa 4 AAAa 16AaAa 4Aaaa 1 aa 1 AAaa 4Aaaa 1aaaa

1 AAAA: 8 AAAa: 2 AAaa: 16 AaAa: 8 Aaaa: 1aaaa

B. Situation 2: Gene is located far from the centromere -RANDOM CHROMATID SEGREGATION -gametic series abcd 10ab+10ac+10ad +10bc+10bd+10cd +3aa+3bb+3cc+3dd AAaa 10AA+10Aa+10Aa +10Aa+10Aa+10aa +3AA+3AA+3aa+3aa = 16AA: 40Aa: 16aa = 2AA: 5Aa: 2aa AAaa x AAaa 2 AA 5 Aa 2 aa 2 AA 4 AAAA 10 AAAa 4 AAaa 5 Aa 10 AAAa 25 AaAa 10 Aaaa 2 aa 4 AAaa 10 Aaaa 4 aaaa 4 AAAA: 20 AAAa: 8 AAaa: 25 AaAa: 20 Aaaa: 4 aaaa

b. Aneuploidy involves changes in the number of chromosomes in a genome Aneuploidy Chromosome Composition A1A2A3A4 Synapsis II Cytological Structures Chromosome no. N Example

Diploid [e.g. (2n=8=2x)(n=4)] A. Addition of Chromosomes Trisomy (2n+1) A1A2A3A4 A1A2A3A4 A1 Tetrasomy (2n+2) A1A2A3A4 A1A2A3A4 A1 A1 Double Trisomy A1A2A3A4 (2n+1+1) A1A2A3A4 A1A2 B. Loss of Chromosomes Monosomy (2n-1) A1A2A3A4 A1A2A3 Nullisomy (2n-2) A1A2A3 A1A2A3



n n+1 n n+2 n+1 n n+1 n+2 n n-1 n-1

Down syndrome (Trisomy 21)

Laggards, Chains and Rings

Laggards, Chains

Turner syndrome (XO)


Laggards None but less number of bivalents at diakinesis Laggards

Double Monosomy (2n-1-1)

A1A2A3A4 A1A2

II + I

n n-2

Structural Changes/Abberrations Involving Parts of One or More Chromosomes Mutations may involve changes in the genetic material that are extensive enough to alter only the structure of the chromosome without causing any change in the number I. Deficiencies/Deletions mutations that result from the loss of a segment of chromosome -whatever genes are located in the deleted segment are permanently lost after cell division

II. Duplications insertion of one or more copies of a chromosome segment in the original chromosome III. Inversions occurs when an internal segment of a chromosome is detached from the chromosome and is inverted before reattachment a. Pericentric inversions occur when the centromere is included in the inverted segment b. Paracentric inversions occur when the centromere is not included in the inverted segment *inversion heterozygote forms inversion loop during pachynema Crossing over within the loop of paracentric inversion heterozygote results in: *acentric fragment without centromere *dicentric chromosome with two centromeres -form bridges during Anaphase I or Telophase I IV. Translocation involves an exchange of segments between two non-homologous chromosomes *crossing over occurs in all the arms of the chromosome ring is observed *crossing over did not occur in at least one arm chain is observed Gene mutation/point mutation involves changes that are confine to one or more loci I. Base pair substitution mutations due to copy errors during DNA replication *Transition mutation purine/pyrimidine with another purine/pyrimidine *Transversion mutation purine with pyrimidine/ pyrimidine with purine a. Nonsense Mutation codon for an amino acid (i.e. sense codon) is transformed into a stop codon (i.e. nonsense codon) b. Missense Mutation mutant codon codes for an amino acid that is different from the original c. Same Sense/Silent Mutation though the sequence of the codon is altered, the mutant codon still codes for the same amino acid Frameshift mutation A. Nucleotide Insertion/ Base Addition B. Nucleotide Removal/Base Deletion -reading frame shifts to the left -reading frame shifts to the right

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