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Human Biology yr 11
DNA
Sex linked inheritance
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Chromosome
Normal somatic cells contain
23
pairs of chromosomes
22
x autosomes
1x
sex
Sex Determination
Dependent on which
sex chromosomes
received from parents
Once chromosome is received from each parent during
fertilisation
Punnet
square
Therefore
sex
is determined by the
chromosome
inherited from the father
Sex linked inheritance
Some genes are presents on X chromosome but not on
Y
(0) as it is so much
shorter
Females inherit
2
alleles for each gene as they have
2
X chromosomes but males only inherit 1 allele of the gene on their one X chromosome
This means that if a male inherits a
recessive
genotype he will have the
recessive
phenotype.
Example 1 - Red green Colourblindness
Caused by the
recessive
gene that causes deficiency in either
red
or green cone receptors in the eyes
The gene for the production of cone receptors is located on the
X
chromosome
Colourblindness
The
normal
production allele = C as it is
dominant
Abnormal cone
production allele = c as it is
recessive
Due to the fact this gene is
X-linked
, it is also important to indicate whether the chromosome is X or
Y
E.d. A man with colourblindness would be
XcY0
(as he has the
recessive
allele on his X chromosome and no allele on his Y chromosome)
Haemophilia
Normal clotting protein production allele =
H
as it is
dominant
Abnormal protein production allele =
h
as it is
recessive
Due to the fact that this gene is
X-linked
, it is also important to indicate whether the chromosome is X or Y
E.g. a man with Haemophilia would be
XhY0
(as he has the
recessive
allele on his X chromosome and no allele on his Y chromosome)
Example 2 - Haemophilia
Caused by the
recessive gene
that prevents
clotting
from occurring properly
The gene for clotting protein production is located on the
X chromosome
Example 3 -
Rett Syndrome
Caused by a dominant gene that causes
grey
matter in the
brain
to work incorrectly
The gene for Rett syndrome is located on the
X
chromosome
Rett Syndrome
Lets say that the allele for
Rett
Syndrome is represented by R as it is
dominant
The allele for
normal grey
matter function is represented by r as it is
recessive
Due to the fact that this gene is
X-linked
it is also important to indicate whether the chromosome is X or Y
E.g. a woman with Rett syndrome could be
XRXR
or
XRXr
as she only needs 1 copy of gene to have a disorder