vendredi 30 mai 2014

Cystic fibrosis


 what is cystic fibrosis?

Cystic fibrosis is a genetic disease, that is to say, due to the presence of a defective gene. It is transmitted in an autosomal recessive mode, which means that this altered gene must be present in both parents. To develop cystic fibrosis, must have two mutated genes. There are so many "healthy carriers" in perfect health because they have only one defective gene.

The cause of the occurrence of the disease cystic fiber is the Remove of three consecutive nitrogen bases (AGA) in the DNA molecule, Where AG has been removed from the codon  number 5 and A from the codon number 6, which leads to the no appearance of amino acid number 6 (phenylAlanine). This imbalance results in a change in the resultant protein in a region of functional importance making it not doing its job.

Symptoms of the disease manifest in : Disturbances in cellular exchanges Which leads to thick mucus secretion So stop breathing and digestive functions of the cells of the person affected.

jeudi 29 mai 2014

Sickle cell anemia





Sickle cell anemia is an inherited blood disease. It is particularly common in populations from sub-Saharan Africa, the Caribbean, India, the Middle East and the Mediterranean basin.

The characteristics of the different levels of the phenotype of sickle cell disease are:

- At the organic level: severe anemia, weakness, respiratory disorders, heart attack and blood (blood circulation is Unusual).

- At the cellular level: the low number of red blood cells, Change its shape (crescent, or sickle), this latter leads to the blockage of blood vessels and thus non saturate tissue of blood

- At the molecular level: Hemoglobin in the lack of oxygen is less soluble, forming a solid grid of fibers in the cytoplasm of erythrocytes.