Sickle cell disease, Cystic Fibrosis, and Huntington's disease are caused by _____.
sickle cell disease is caused by a defective allele for ____
beta-globin, one of two polypeptides in hemoglobin.
sickle cell disease makes
hemoglobin less soluble, causing hemoglobin to stick together when the blood's oxygen decreases.
Sickle cell disease can result in
damage to cells, tissues, and even organs
Cystic Fibrosis is caused by
a genetic change almost as small as the earwax allele. Most cases result from the deletion of just three bases in the gene for a protein called cystic fibrosis trans-membrane conductance regulator.
in Cystic Fibrosis the loss of these bases removes a single amino acid--phenylalanine--from cftr, causing the protein to fold improperly. the protien is then destroyed.
Cystic Fibrosis is
Cystic Fibrosis makes children
have serious digestive problems and produce a thick heavy mucus that clogs the lungs and breathing pathways.
Huntington's disease is caused by
a dominant allele for a protein found in brain cells. the allele for this disease contains a long string of bases in which the codon CAG--coding for the amino acid glutamine--repeats more than forty times.
The symptoms for Huntington's disease, namely mental deterioration and uncontrollable movements, usually do not appear until middle age. The greater the number of codon repeats, the earlier the disease appears, and the more severe are its symptoms.