The defect is that hemoglobin (the protein) elongates. Instead of being circular, it acquires a crescent shape. With this shape, its harder for it to absorb and release oxygen. Also, when the blood cell reaches the capillaries, it can't fit through as well as normal blood cells can, which is why Sickle-Cell is painful.
recessive defect meaning that both copies of the chromosome must have the defect before it can be expressed. Females who have one X chromosome without the defect do not get this disease. Males, since they only have one X chromosome, get the disease
Explain the origin of the defect distribution in a typical software development life cycle.?
A Congenital Heart Defect
Nephritis, a congenital kidney defect.
Mutation usually causes the entire base sequence to defect. This usually happens during the protein synthesis.
PKU
In Pompe's disease, the defect lies in the lysosomal enzyme alpha-glucosidase, which leads to the accumulation of glycogen in lysosomes. In Tay-Sachs disease, the defect is in the enzyme hexosaminidase A, which leads to the accumulation of GM2 gangliosides in lysosomes.
X-linked Charcot-Marie-Tooth disease (CMTX) is caused by a defect in connexin 32. This protein forms connections between adjacent cells, allowing ions to flow between them.
A defect in the cell-mediated immune system response was identified with regard to Hepatitis B (with many articles written about this in 2008-2009). HIV-AIDS is another disease with a defect in cell-mediated immune response, as well. There are other immunodeficiency diseases involving this kind of defect, too. immunological deficiency syndroms
Golgi apparatus
Gaucher disease is caused by a genetic defect in an enzyme called glucocerebroside. There are four different types of this disease. For more information about Gaucher disease visit Answers.com
Polycystic disease is a congenital defect in which one or both of the kidneys have numerous large cysts.