LORENZO’S OIL

Andrea Reina Gutiérrez

Esperanza Ródenas Perea

Olga Conde Carretié

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.

X-Linked women.

Men. Result

X(A)X(A) X(A)Y Healthy

X(a)X(a) X(a)Y Sufferer

X(A)X(a) Carrier

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)