腺苷脱氯酶(ADA)是核酸代谢反应中催化腺嘌呤核苷(A)和脱氧腺嘌呤核苷(dA)脱氨的一种酶。该酶基因定位,基因序列和结构均已确定。在ADA缺陷病人体内,该酶基因可发生点突变和片段缺失,导致该酶缺陷。ADA缺陷往往导致重症联合免疫缺陷病症(scid)。用基因疗法将该酶基因导入病人体细胞内,有可能使ADA缺陷得到纠正,并最终治愈重症联合免疫缺陷病患儿。 Adenosine deaminase (ADA) is an enzyme that catalyzes the deamination of adenosine (A) and deoxyadenosine (dA) in nucleic acid metabolism reactions. The enzyme gene mapping, gene sequence and structure have been identified. In ADA-deficient patients, point mutations and fragment deletions may occur in the enzyme gene, leading to the enzyme deficiency. ADA deficiency often leads to severe combined immunodeficiency scid. Gene therapy to the enzyme gene into the body cells of patients, may make ADA defects corrected, and eventually cure children with severe combined immunodeficiency disease.