How many statements regarding ADA deficiency are correct?
How many statements regarding ADA deficiency are correct?
The correct option is D 2
Adenosine deaminase deficiency (ADA deficiency) is caused by deletion of the first exon and the promoter region of the ADA gene. This gene is responsible for making ADA enzyme which is found especially in white blood cells (lymphocytes).
ADA deficiency results in the accumulation of deoxyadenosine, which leads to the formation of dATP in all cells, which in turn inhibits the formation of ribonucleotide reductase leading to the prevention of DNA synthesis . Hence the cells are unable to divide. This particularly effects the devlopment of lymphocytes.
In enzyme replacement therapy patients need to take these ADA injections fairly regularly, sometimes even twice weekly.
The process of bone marrow transplantation involves the most difficult task of locating a suitable donor .The optimal donor is a histocompatible (Human Leukocyte Antigens-HLA) matched relative who is usually a sibling or, in rare cases, a parent or grandparent with identical HLA tissue typing. It is because of this difficulty that a suitable donor is fairly difficult to find.
Thus, in the above mentioned statements the second and fourth ones are correct.
Adenosine deaminase deficiency (ADA deficiency) is caused by deletion of the first exon and the promoter region of the ADA gene. This gene is responsible for making ADA enzyme which is found especially in white blood cells (lymphocytes).
ADA deficiency results in the accumulation of deoxyadenosine, which leads to the formation of dATP in all cells, which in turn inhibits the formation of ribonucleotide reductase leading to the prevention of DNA synthesis . Hence the cells are unable to divide. This particularly effects the devlopment of lymphocytes.
In enzyme replacement therapy patients need to take these ADA injections fairly regularly, sometimes even twice weekly.
The process of bone marrow transplantation involves the most difficult task of locating a suitable donor .The optimal donor is a histocompatible (Human Leukocyte Antigens-HLA) matched relative who is usually a sibling or, in rare cases, a parent or grandparent with identical HLA tissue typing. It is because of this difficulty that a suitable donor is fairly difficult to find.
Thus, in the above mentioned statements the second and fourth ones are correct.
