Autosomal Recessive Inheritance by Kyle Cummings What Does

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. 2013 <http: //www. cff. org/About. CF/? gclid=CKX T 2 d. H 1 w. LUCFa 1 AMgod. IXEAEA>.

Bibliography (continued) § "Cystic Fibrosis Gene. " Cystic Fibrosis Gene. 18 Feb. 2013 <http: //www. ornl. gov/sci/techresources/Human _Genome/posters/chromosome/cftr. shtml>. § "Sickle Cell Anemia Disease Profile. " Sickle Cell Anemia Disease Profile. 18 Feb. 2013 <http: //www. ornl. gov/sci/techresources/Human _Genome/posters/chromosome/sca. shtml>

Bibliography (continued) § "Sickle cell disease. " - Genetics Home Reference. 18 Feb. 2013 <http: //ghr. nlm. nih. gov/condition/sicklecell-disease>. § "Tay-Sachs disease. " - Genetics Home Reference. 18 Feb. 2013 <http: //ghr. nlm. nih. gov/condition/taysachs-disease>.