Autosomal Recessive Inheritance by Kyle Cummings

What Does It Mean?  The word autosomal means that it is on the 22 non-sex chromosome pairs.  Recessive means that both of the same allele must be present to show the trait in the phenotype.  Three diseases that are like this: Cystic Fibrosis, Sickle Cell Anemia, and Tay Sach’s Disease.

Cystic Fibrosis  Produced by double recessive alleles.  It involves having a thick mucus on the inside of lungs.  It leads to infection and trouble breathing.  They are still looking for a cure  In 1989 they were able to isolate and clone the gene for Cystic Fibrosis  There are just basic treatments for those afflicted by C.F.

Cystic Fibrosis (continued)  Treatments:  Patting with some force on back and chest to loosen mucus on lungs.  With modern medicine a variety of new ways to fight it have arisen.

Cystic Fibrosis (continued)

Sickle Cell Anemia  Produced by double recessive alleles.  Causes blood cells to form in a sickle shape under low oxygen condition.  This impedes the flow of blood because it makes the cells less flexible and unable to move through smaller capillaries.

Sickle Cell Anemia (continued)  Variety of Treatments available:  The infections brought on by it are controlled by many different antibiotics.  Blood transfusions are very common  It can be cured through a very risky procedure of replacing the bone marrow with healthy bone marrow.  This is a treatment because the bone marrow produces the blood cells, and healthy marrow makes healthy blood cells.

Sickle Cell Anemia (continued)

Tay-Sachs Disease  Produced by double recessive allele.  A fatty substance of the brain accumulates heavily.  Causes deterioration of nervous system.  Results in death at an early age.  Other forms of it come on later in life, some not until adolescence or even in someone’s mid-30’s.  These milder later developing forms are brought on by having less of the Hex A rather than not having it at all.

Tay-Sachs Disease (continued)  No cure or effective treatments:  Doctors provide medication that will only ease the suffering.  They attempt to manage seizures and other symptoms.  As for all of the diseases I have described, gene therapy is one solution further in the future.

Tay-Sachs Disease (continued)

Bibliography  "About CF: Causes, Signs & Symptoms of Cystic Fibrosis | CF Foundation." About CF: Causes, Signs & Symptoms of Cystic Fibrosis | CF Foundation. 18 Feb

Bibliography (continued)  "Cystic Fibrosis Gene." Cystic Fibrosis Gene. 18 Feb  "Sickle Cell Anemia Disease Profile." Sickle Cell Anemia Disease Profile. 18 Feb  "Sickle Cell Anemia Disease Profile." Sickle Cell Anemia Disease Profile. 18 Feb. 2013

Bibliography (continued)  "Sickle cell disease." - Genetics Home Reference. 18 Feb  "Tay-Sachs disease." - Genetics Home Reference. 18 Feb