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Ms. McFarlane
Biology HL
7th September, 2014
Pg. 81
4.1.1 State that eukaryotic chromosomes are made of DNA and protein
Eukaryotic chromosomes consist of DNA wrapped around histone proteins
This forms the basic structure of the nucleosome, which is packed together to form
chromatin (in a 'beads on a string' arrangement)
Chromatin will supercoil and condense during prophase to form chromosomes that
can be visualised under a light microscope
4.1.2 Define gene, allele and genome
Gene: A heritable factor that controls a specific characteristic, consisting of a
length of DNA occupying a particular position on a chromosome (locus)
Allele: One specific form of a gene, differing from other alleles by one or a few
bases only and occupying the same locus as other alleles of the gene
Genome: The whole of the genetic information of an organism
4.1.3 Define gene mutation
Gene mutation: A change in the nucleotide sequence of a section of DNA coding for
a particular feature
4.1.4 Explain the consequence of a base substitution mutation in relation
to the process of transcription and translation using the example of sickle
cell anaemia
A base substitution mutation is the change of a single base in a sequence of DNA,
resulting in a change to a single mRNA codon during transcription
In the case of sickle cell anaemia, the 6th codon for the beta chain of haemoglobin
is changed from GAG to GTG (on the non-coding strand)
This causes a change in the mRNA codon (GAG to GUG), resulting in a single amino
acid change of glutamic acid to valine (Glu to Val)
DNA: GAG to GTG (non-coding strand)
mRNA: GAG to GUG
Amino Acid: Glu to Val
The amino acid change alters the structure of haemoglobin, causing it to form
fibrous, insoluble strands
This causes the red blood cell to adopt a sickle shape
Also causes anaemia (low RBC count), as the sickle cells are destroyed more rapidly
than normal red blood cells
Sickle cell anaemia occurs in individuals who have two copies of the codominant
'sickle cell' allele (i.e. homozygotes)
Heterozygous individuals have increased resistance to malaria due to the presence
of a single 'sickle cell' allele (heterozygous advantage)
Pg. 84
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Locus
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9. Because if a women is aged over 35, then it is recommended that she should
get a karyotype preoccupation about the chromosomal integrity of the
unborn.
10.
Did I read the section from the textbook over the topic that we will be
discussing in class, and make note of any key words or concepts? *
o
Sort of, I read the questions and then skimmed the chapter for the answers to
the questions.
No.
Did I answer all of the questions that I understood fully, paying attention
to the command terms.*
o