Lorenzo’s oil (1)
Transcript of Lorenzo’s oil (1)
INHERITANCE OF SEX
I
n humans, sex genes are in a pair of chromosomes being
different in shape and size: HETEROCHROMOSOMES
T
he remaining 22 pairs of chromosomes that don't
determine sex characteristics are called autosomes.
INHERITANCE OF SEX
I
n somatic cells, 44 autosomes and 2 sex chromosomes =
karyotope is 46.
F
emales: 22 pairs and XX chromosomes.
M
ales: 22 pairs and XY chromosomes.
SEX-LINKED INHERITANCE
G
ene not determining a sex characteristic. Gene
located on the XX chromosome, so it's sex-linked.
E
xemples: Hemophilia and colour blindness
RARE DISEASE
T
hey have a low incidence in the population (Only
affect less than 5 per 10000 habitans)
T
here are 700 rare diseases affecting 7% population.
(According to the WHO)
ADRENOLEUKODYSTROPHY (ALD).
G
enetic disease.
A
bbnormal accumulation of long chain saturated fatty acids
in cells of the adrenal gland and white matter white matter of the
central nervous system.
N
ervous system
Loss of myelin surrounding the axon of neurons, diminishing electrical nerve transmission.
SIGNS AND SYMPTOMS.
A
taxia (disturbance of the nervous systems functions affecting voluntary movements.
A
bnormal behavior.
A
drenal insufficiency.
S
eizures.
D
ementia.
C
oncluding with premature death.
Long chains of hydrocarbons + carboxyl terminalFatty Acids
Termed saturatedSingle bonds between carbon atoms
surrounded by hydrogen atoms
Untermed saturatedDouble bonds between carbon atoms
Single double bond: monounsaturated Two or more double bonds: polyunsaturated
•Myelin: Lipoprotein which covers the axon of neurons. It propagates electrical impulsesalong neuron much faster.
•Hemophilia: X-linked recessive disease -> deficiency of blood clotting factors -> reduce clot formation in trauma and heavy bleeding. (Female carriers -> ill children)
•Klinefelter syndrome: Genetic disease in which men has 47 chromosomes instead of 46. This produces a lack of hair, gynecomastia (increased breast tissue), hypogonadism (no semen, undeveloped testicles) or eunuchoid (non-sexual differentiation)