Deficiencies Due To Single Gene Defects

In some cases defect in one gene at one locus affects total behaviour. Some of these are discussed in
details as follows:
1. Phenylketonuria (PKU): This is characterized by mental retardation and queer
smelling urine, which is identified as the presence of phenyl pyruvic acid in urine. This is an
amino acid disorder. Asbjorn Folling (1934) Austrian dentist first noticed it in two of his
children with symptoms of vomiting, irritability, seizures and hyperactivity. This is due to
inheritance of a double recessive gene for this disorder as parents are homozygous. This
disorder completely upsets the biochemical pathway creating toxins which damages the brain
irreversibly. There is Irreversible brain damage due to buildup of phenylpyruvic acid and
byproducts—toxin what can be done? Hospital checks immediately after birth if results are
positive then these babies are place on a controlled diet to reduce the damage. However, the
timing of treatment is important especially when the brain is developing rapidly. Diamond
and colleagues (1997) have shown that early control reduces but not completely eliminate
cognitive deficits which are similar to prefrontal damage.
2. Tay-Sach’s disease: Infantile and juvenile cerebral lipdosis or amauratic idiocy. This is
a defect in the lipid metabolism due to a double recessive gene at single locus which means
that both parents are carriers. This is found mainly in Eastern European Ashkenazi Jewish
families. Homozygous for this gene do not survive.
• Infantile form of this disease is found mainly at a few months of age (during 1st year);
the symptoms are motor weakness, blindness (cherry red spot in the retina) and mental
deterioration. Death occurs in 1-3 years.
• Juvenile form is found at around 2-10 years of age with similar symptoms i.e. optic
atrophy, blindness, paralysis, mental deterioration eventually death.
3. Huntington’s chorea: is characterized by a progressive degeneration both physical and
mental. This is due to a dominant gene which is transmitted to males only. In this disorder the
cortex and Basal ganglia are affected. Damage to the Cortex results in dementia (forgetting)
and damage to the, Basal Ganglia leads to involuntary jerky movements. Drugs are given to
control movements. The onset of this symptom is between 30-50 years, death occurs between
5-20 years with rapid progression of deterioration.
4. Alzheimer’s genetic transmission is shown to occur especially in cases where it shows
up in young. Chances increase if a close relative has it. The case of Hannah’s heirs- Jewish
mother from Russia had it and 5/8 children developed Alzheimer’s during their late 40’s
Chromosomal Abnormalities
The abnormalities which occur to the defect in the chromosome and follow the transmission of the
chromosome are several. These are discussed as follows:
1. Downs Syndrome (mongolism). In a normal human there are 23 pairs of chromosome
(23from other and 23 from father) which is then 46 chromosomes. However, in some cases
there is an additional chromosome which adds up the total to 47 chromosomes. There is a
trisomy (instead of two there are three chromosomes) at pair number 21. This can occur
sometimes at pair number 15, (or pair number 21 intermingled with #15- during sex cell
formation and the #15 carries an extra #21). The older the age of the mother, the more
chances of downs syndrome in the child. Therefore now amniocentesis is routinely required to
test for this to prepare parents and to advise them.
2. Klienfelters Syndrome (XXY), this is a genetic anomaly related to the sex chromosome. One
extra X is transmitted to an otherwise normal male pattern-male with female characteristics or
a masculinized female. There is atrophy of reproductive ducts, sometimes mental retardation
and some personality problems (not in all cases)
3. Turner’s syndrome: this involves a missing sex chromosome. There is only one X
chromosome. These are females, short stature, with ovaries not developed. They have normal
intelligence however are deficient in spatial discrimination (spatial discrimination space-form
blindness- cant copy figures right.- hypothesis that this trait may be sex linked?)
4. XYY Syndrome: this is also a chromosomal anomaly where an additional Y chromosome is
attached to the normal male pair. These males are taller, muscular, and sturdy slightly
retarded. The extra Y increases in maleness and aggression. Research on jail inmates with
aggressive, brutal crimes (Jarvick, 1973) Incidence 2-13% in Jail pop whereas in normal it is
about 1%.
5. Lesch-Nyhan syndrome: this is due to a recessive gene carried on the X chromosome found
only in males. The symptoms are Cerebral palsy, involuntary movements of the limbs, hands,
feet and facial muscles, self mutilation lips mouth and fingers. This is due to an enzyme
deficiency with an extreme over production of uric acid. Self mutilation is due to increased
Dopamine B-hydroxylase in plasma.