Chromosomes, genes, alleles and mutations

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4.1 Chromosomes, genes, alleles and mutations / 4.2 Meiosis / 4.3 Theoretical genetics /4.4
Biotechnology /

Chromosomes, genes, alleles and mutations

4.1.1 Eukaryotic Chromosomes

4.1.2 Definitions

4.1.3 Gene mutation.

4.1.4 Sickle cell anaemia

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4.1.1 Eukaryotic Chromosomes

The chromosome is composed of two

main molecules.

a) DNA

b) Proteins called histones.

This image was taken shortly after

DNA a replication but before the
prophase. It is composed of two
daughter chromatids joined at the
centromere.
 The chromosome is super coiled by a factor around x16,000. The DNA molecule is about
1.8m long but is located in the nucleus which is only 10um in diameter!

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4.1.2 Definitions

 Gene:a heritable factor that controls a

specific characteristic.
 Allele: one specific form of a gene,
differing form other alleles by one or a
few bases only and occupying the
same gene locus as other alleles of that
gene.
  Genome: the whole genetic information of the organism.

4.1.3 Gene mutation.

 Gene mutation is a change in the base sequence of an allele.

 The changed base sequence may produce a different amino acid sequence in the protein
translated.
 The changed base sequence may not change the protein because of the degenerate nature
of the genetic code.
 The expression of the mutated gene may or may not be beneficial to the organism.
 Substances that cause mutation are called mutagens and include chemicals and radiation.

 A mutation story

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4.1.4 Sickle cell anaemia

Sickle cell anaemia is a genetic disease.

Frequency ia about 1 in 655 African

Americans

The disease is inherited not contracted by

infectious routes.

Sickle cell anaemia at the tissue level:

(a) Normal haemoglobin has two of four

proteins changed in the mutation.

 
 

(b) The normal biconcave disc shape of the red blood cell is changed to a 'sickle' shape.

(c) In addition to not carrying oxygen correctly (anaemia) the cells also causes local clots
(infarctions) such as is shown in the kidney tubules. This leads to necrosis (death) of the tubules,
kidney damage, kidney failure and possible to death.

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Genetic of Sickle
Cell.

The gene
loci for the
normal
beta chain
of

haemoglobin is on chromosome 11.

 The normal allele carried the triplet GAG at the sixth amino acid position for the beta
chain (146 amino acids).
 This transcribed and translates into the negatively charged Glutamic acid.
 The mutation changes a single base ( T replaces A) and this transcribes and translates into
the amino acid Valine.
 Valine has a neutral charge and the result is a change in the shape of the beta chain with
long needle like structures forming.
 This gene is noted for many mutations and it is estimated that some 5% of humans carry
one or other variants.

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TOKBIT
Global distribution of sickle cell:

This is a map of the distribution of endemic

falciparum malaria.

The major areas are the Mediterranean,

tropical Africa, middle east and Asia.

The regions of the World are well known as

the endemic malaria regions of the world with
the associated debilitation and deaths in the
local populations.

This map show the distribution of the sickle

cell allele Hbs

The regions noted as having high frequency of

Hbs are the same as the regions above noted
for malaria.

There appears to be a correlations between the

distribution of malaria and the frequency of
sickle cell allele.

The questions therefore: 'Is this just correlation

or is there a causation' for the coincidence of
malaria and sickle distribution?'

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There are many instances when correlation and causation are just a coincidence and there is no
causation or mechanism that likes the two variables.

Distribution of malaria and sickle cell:

There is however a well established causation between the sickle cell allele and the distribution
of malaria.
  In these regions sickle cell trait ( HbAHbs ) are resistant to the malaria parasite. This is
because the Hbs allele makes it difficult for the parasite to live inside the red cells. Sickle
cell trait (carriers) therefore survive malaria infection.

 HbAHbA normal haemoglobin people are susceptible to malaria infection and do not
survive well.

 HbsHbs have sickle disease and do not survive well.

 The sickle allele survives well in malaria regions accounting for its high frequency in
these regions.

The CDC have an excellent reference site giving further information on sickle cell anaemia.

Sickle cell links:

 Wiki on sickle cell

 Harvard Education
 WHO Sickle cell

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