Work of Teresa and Alba

1. Alba Briones Luna nº2
Teresa Granado Ruiz nº9

2. INHERITANCE OF SEX
 Heterochromosomes genes that determine sex, are in a pair of
chromosomes being different in shape and size.
 Remain 22 pairs of chromosomes autosomes.
 Somatic cells: 44 autosomes + 2 sex chromosomes.
FEMALE MALE
22 22
autosomes autosomes
XX XY
 Any numerical aberration is considered a mutation disease.
 Klinefelter’s syndrome karyotype 47, XXY: male phenotype, femenine
characteristics.

3. SEX-LINKED INHERITANCE RARE DISEASE
 Gene not determining a sex  Low incidence in the
characteristic located on X population.
chromosome.  Only affect less than 5 per
 Hemophilia and colour 10.000 inhabitants.
blindness: X-linked.  WHO: approximately 700 rare
 Y-linked women could not have diseases affecting 7% of the
that allele. world population.
 Passed on from fathers to sons  Spain: 3 million people with
rare diseases.

4. ADRENOLEUKODYSTROPHY (ALD)


5. FATTY ACIDS and MYELIN
 Long chains of hydrocarbons with a carboxyl terminal.
 Saturated fatty acids single bonds which in the carbon atoms surrounded
by hydrogen atoms.
 Unsaturateddouble bonds.
 Monounsaturated single double bond.
 Polyunsaturated 2 or more double bonds present in a long chain fatty acid.
Myelin
 Lipoprotein that covers the axon of neurons.
 Propagates the electrical impulses along neurons much faster.
 Demyelination: slows electrical condution decreasing normal functional
activity.

6. HEMOPHILIA
