CHAPTER 6: CELL DIVISION

6.4 ISSUES OF CELL DIVISION ON HUMAN HEALTH

6.4.1 Explain the effects of abnormal mitosis on human health: tumour & cancer
6.4.2 Evaluate the effects of abnormal meiosis on Down syndrome individuals.
Gene Mutation
Chromosomal Mutation

Abnormal Chromosome
Number

Polyploidy Aneuploidy
Extra chromosome sets An extra or missing chromosome

Triploid Octaploid Autosomal Aneuploidy Sex Chromosome Aneuploidy

Tetraploid

• Sex chromosome aneuploidy is less severe

than autosomal aneuploidy.
sperm or
oocyte

Adopted from Human Genetics concepts and Application 9th ed.

 Syndromes

Adopted from Human Genetics

concepts and Application 9th ed.
 a. Trisomy 21- Down syndrome
• Most common autosomal aneuploidy.

• Many people with Down syndrome have physical

problems:
• Heart and kidney defects
• Hearing and vision loss.
• A suppressed immune system can make influenza
deadly.
• Digestive system blockages are common and may
require surgical correction
 a. Trisomy 21- Down syndrome
• Chances of Trisomy 21 Down syndrome
increases with the age of the mother.

• About 90 percent of trisomy 21

conceptions are due to nondisjunction
during meiosis I in the female.

• The 10 percent of cases due to the male

result from nondisjunction during meiosis
I or II.

• The chance that trisomy 21 will recur in a Adopted from Human Genetics concepts
family is 1%. and Application 9th ed.
Gene Mutation vs Chromosomal Mutation
Causes of Mutations
• Errors in DNA Replication
On very, very rare occasions DNA polymerase will incorporate a
noncomplementary base into the daughter strand. During the next round
of replication the missincorporated base would lead to a mutation. This,
however, is very rare as the exonuclease functions as a proofreading
mechanism recognizing mismatched base pairs and excising them.
• Errors in DNA Recombination
DNA often rearranges itself by a process called recombination which
proceeds via a variety of mechanisms. Occasionally DNA is lost during
replication leading to a mutation.
• Chemical Damage to DNA
Many chemical mutagens, some exogenous, some man-made,
some environmental, are capable of damaging DNA. Many
chemotherapeutic drugs and intercalating agent drugs function by
damaging DNA.
• Radiation
Gamma rays, X-rays, even UV light can interact with compounds in
the cell generating free radicals which cause chemical damage to
DNA.