Unit 3

Unit 3: Genetics
3.1 Genes
Understandings:
 A gene is a heritable factor that consists of a length of DNA and influences a specific
characteristic.
 A gene occupies a specific position on a chromosome.
 The various specific forms of a gene are alleles.
 Alleles differ from each other by one or only a few bases.
 New alleles are formed by mutation
 The genome is the whole genetic information of an organism.
 The entire base sequence of human genes was sequenced in the Hyman Genome Project.
Applications and skills:

 Application: The causes of sickle cell anaemia, including a base substitution mutation, a
change to the base sequence of Messenger ribonucleic acid (mRNA) transcribed from it, and
a change to the sequence of a polypeptide in haemoglobin.
 Application: Comparison of the number of genes in humans with other species.
 Skill: Use of a database to determine differences in the base sequence of a gene in two
species.
Guidance
 Students should be able to recall one specific base substitution that causes glutamic acid to
be substituted by valine as the sixth amino acid in the haemoglobin polypeptide.
 The number of genes in a species should not be referred to as genome size as this term is
used for the total amount of DNA. At least one plant and one bacterium should be included
in the comparison, and at least one species with more genes and one with fewer genes than
a human.
 The GenBank^R
Mutations
A mutation is a random, rare change in genetic material. One type involves a change of the sequence
of bases in DNA. If DNA replication works correctly, this should not happen. But nature sometimes
makes mistakes. For example, the base thymine might be put in place of adenine (A) along the DNA
sequence. When this happens, the corresponding abses along the messenger RNA (Mrna) are
altered during transcription.
As we have seen with the example of cystic fibrosis, mutated genes can have a negative effect on a
person’s health. Sometimes, however, mutations can have a positive effect that is beneficial to an
organism’s survival.
Are mutations good or bad for us?
LRP5 is a gene that helps immune system cells make a certain type of protein that acts as a receptor
on their surfaces. Research indicates that this receptor is used by the human immunodeficiency virus
(HIV) to infect the cells. People with a mutation of LRP5 cannot make this receptor protein on their
immune system’s cells and, as a result, HIV cannot infect them. This means that people with a
mutated allele of LRP5 are naturally immune to HIV. Such a mutation is very rare in the human
population.
A mutation that provides an individual or a species with a better chance for survival is considered to
be a beneficial mutation, and there is a good chance that it will be passed on to the next generation.
In contrast, mutations that cause disease or death are detrimental mutations, and they are less likely
to be passed on to future generations, because they decrease the chances of an individual’s survival.
In addition to beneficial and harmful mutations, there are neutral mutations that do not have an
effect on a species’ survival.
When a mutation is successfully passed on from one generation to the next, it becomes a new allele:
it is a new version of the original gene. This is how new alleles are produced. You and everyone you
know possess many mutations. Whether they are harmful, beneficial or neutral depends on what
they are and what kind of environment you need to survive in.
A gene to help digestion
For most of our existence, humans have been hunter-gatherers and our genes are generally well
adapted for this lifestyle. Originally, as for all mammals, the only age at which we drank milk was
when we were infants. By the time our ancestors reached adulthood, their bodies had stopped being
able to digest milk; more precisely, humans could not break down the disaccharide in milk called
lactose. This continues to be the case for most of the human population

Unit 3

Uploaded by

Copyright:

Available Formats

Unit 3

Uploaded by

Document Information

Copyright

Available Formats

Share this document

Share or Embed Document

Sharing Options

Did you find this document useful?

Is this content inappropriate?

Copyright:

Available Formats

Unit 3

Uploaded by

Copyright:

Available Formats

Unit 3: Genetics

Applications and skills:

Are mutations good or bad for us?

A gene to help digestion

You might also like

Pfad - The Proxy pFad of © 2024 Garber Painting. All rights reserved.