INHERITANCE & THE SEX CHROMOSOMES

•  Females have 23 pairs of

matched chromosomes.
•  Males have 22 pairs of
matched chromosomes
and one non-matching
pair.
•  The 23rd pair of
chromosomes determine
sex:
–  Females have 2 large
(X) chromosomes.
–  Males have 1 large (X)
chromosome & one
small (Y)
chromosome.
•  The other 22 pairs of
chromosomes are called
autosomes.
HUMAN MALE AND FEMALE KARYOTYPE
 THE X & Y CHROMOSOMES

•  Females have only

X chromosomes.
•  They produce
haploid ova with
only the X
chromosomes.
•  Males have both X
and Y
chromosomes.
•  They produce
haploid sperm with
either X or Y
chromosomes.
 SEX DETERMINATION: WHAT ARE THE
CHANCES OF HAVING A BOY OR GIRL?
•  The father
determines the sex of
the child.
•  X- and Y- bearing
sperm occur in
approximately equal
numbers in semen.
•  At fertilisation, there
is thus an equal
chance of a male or
female child being
conceived, over the
whole population.
 SEX-LINKED INHERITANCE
•  Autosomal
inheritance involves
genes on one of the
22 autosomes.
•  Sex-linked
inheritance involves
genes on the X or Y
chromosomes.
•  The Y chromosome
is smaller than the X
and does not have
the same number of
genes.
 SEX-LINKED INHERITANCE
•  Females have the
XX genotype.
•  For females, normal
allele pairing occurs.
•  Males have the XY
genotype.
•  For males, most of
the genes on the X
chromosomes lack
matching alleles on
the Y.
•  Males are
hemizygous for X-
linked genes.
•  Hemizygous means
“having no allelic
counterpart”.
 SEX-LINKED INHERITANCE
•  Hemizygous
(unmatched)
alleles on the X
chromosomes
cannot be masked.
•  They will be
expressed.
•  Therefore X-linked
disorders are more
common in males
than in females.
•  A carrier does not
show the affected
phenotype but
carries the
affected gene.
 FEMALE CARRIERS – THE MASKED
RECESSIVE ALLELES
•  Haemophilia and
red-green colour
blindness are X-
linked disorders.
•  The allele for both
disorders is
recessive.
•  For a female to show
either of these
phenotypes, BOTH
her X chromosomes
must carry the (rare)
recessive allele.
•  However, if she
carries the allele on
one X chromosome,
it will be found in
50% of her ova.
 HOW FEMALE CARRIERS AFFECT THEIR
SONS
•  There is a 50%
chance that a
female carrier
will pass on the
affected allele to
her offspring.
•  Affected sons
are hemizygous
and will show
the phenotype.
 HOW FEMALE CARRIERS AFFECT THEIR
DAUGHTERS
•  There are 2
possibilities for
affected daughters.
•  If they receive a
normal allele from
their father, they will
be heterozygous
carriers but will not
show the phenotype.
•  If they receive an
affected allele from
their father, they will
be homozygous
recessive. They will
show the phenotype.
 HOW TO SET OUT CROSSES FOR X-
LINKED ALLELES
•  The allele is given a
capital letter for the
dominant allele and
the lower case
version of the letter
for the recessive…
BUT…
•  The alleles are
written attached to As shown on a pedigree…..
the X chromosome
on the top right of
the X.
•  No allele is attached
to the Y.
…. and a Punnett Square.
***The sex, genotype and phenotype of the offspring must be written as well
as the % of each.

25% normal homozygous daughters 25% heterozygous carrier daughters

25% heterozygous carrier daughters 25% affected homozygous daughters
25% normal sons 25% normal sons
25% affected sons 25% affected sons
 ACKNOWLEDGEMENTS

•  http://home.planet.nl
•  http://openlearn.open.ac.uk
•  http://image.tutorvista.com
•  http://www.synapses.co.uk
•  http://www.slh.wisc.edu
•  http://www.mun.ca
•  http://www.wissensdrang.com
•  http://graphics8.nytimes.com
•  http://www.cardiovascularultrasound.com
•  http://www.nlm.nih.gov