Two young unrelated girls with similar but not identical manifestations of immunological deficiency were found to have no measurable adenosine-deaminase (A.D.A.) enzyme activity in their red blood-cells. The red-cell A.D.A. levels in the parents of one child were about half normal and in the other set of parents about two-thirds normal, suggesting they may be heterozygous, and their affected children homozygous, for a mutant A.D.A, gene. Since the A.D.A. produced by normal lymphocytes is mainly the kind found in red cells, a causal association is postulated between the absence of A.D.A. and impaired lymphocyte function in certain patients with inherited immune disease. An alternative possibility of partial chromosomal deletion is also considered.
原文链接
分享
引用
