Gemetic Disorder

GENETIC DISORDER

Autosomal Recessive Disorders

Autosomal dominant disorders

Chromosome-linked genetic disorders

The individual needs to inherit a mutated allele from the father and a mutated allele from the mother for the disease to occur. If the person inherits a mutant allele and a normal allele, in most cases he/she will be a healthy carrier individual.

If an individual is homozygous for the mutant allele that encodes a defective tyrosinase, albinism occurs.

Autosomal recessive disease that alters the metabolism of amino acids

Phenylketonuria

Albinism

Autosomal dominant disorders occur when the defective or mutant allele is dominant over the normal one, and it's enough that it's present in a parent so that the disorder is expressed in the offspring.

A mutation causes the production of a modified form of the huntingtin protein, which accumulates inside the neurons causing deterioration in some parts of the brain.

Huntington´s disease

A recessive allele on the X chromosome wich presents the synthesis of a problem necessary for coagulation.

Causes 2 homologus chromosomes not to separate in meosis is called nonjunction, in the case of trisonomy 21 inondisjunction causes the number of chromosomesof some of the gametes to be altered generating zygotes with 47 chromosomes

Trisomy 21 or Down Syndrome