Mendelian Disorders

Name Genetic Cause Effects Inheritance pattern

Trait

Colour blindness X-linked Defect in the Unable to A daughter will be colour blind only if the
recessive green or red discriminate father is colour blind
cone of the between red There is a 50 percent probability of a carrier
eye and green female to transfer the disease to sons
colour

Haemophilia X-linked Defect in one Continuous A daughter will be colour blind only if the
recessive protein bleeding from father is colour blind
involved in wounds There is a 50 percent probability of a carrier
the clotting of female to transfer the disease to sons
blood

Sickle cell anaemia Autosome- A single point Anaemia Offsprings may get the disease when both the
linked mutation in parents are a carrier (heterozygote)
recessive the beta-
globin chain
of
haemoglobin

Thalassemia Autosome- Mutation in Formation of Offsprings may get the disease when both the
linked the genes abnormal parents are a carrier (heterozygote)
recessive HBA1 and haemoglobin
HBA2 present molecule
on the resulting in
chromosome anaemia
16

Phenylketonuria Autosome- Lack of an Mental Offsprings may get the disease when both the
linked enzyme that retardation. parents are a carrier (heterozygote)
recessive converts Accumulation
phenylalanine and excretion
to tyrosine of
phenylalanine
and its
derivatives in
urine