ten years of molecular genetic studies in iranian ataxia–telangiectasia patients

at is an autosomal recessive disorder characterized by early onset progressive cerebellar ataxia, oculocutaneous telangiectasia, bronchopulmonary, lymphoid tumors, immunodeficiency and chromosomal instability. the defective gene is atm (at mutated) localized in chromosome 11q22-23. at patients are at risk of cancer, which is the second cause of death in this disease. iranian at patients have mainly registered at the childrens medical center (tehran, iran) and their clinical and immunologic features are carefully evaluated by moin et al. and rezaei et al. at the same center. we have studied the atm gene mutations detection in iranian at patients and presented a preliminary map of the mutations in these patients. also, we reported the result of the study on the application of two differed molecular markers for prenatal diagnosis of at in iranian patients. gatti and his research group have studies gene mutations and the haplotypes association mutations analysis in iranian patients with at. association of the other genes such as mitochondria, bax and bak has recently been studied in iranian at patients and the results will be discussed in this paper. result of the aforementioned studies and some other related scientific reports show the need for more genetic investigation in iranian patients for achieving a clear picture of the genetic defects in iranian at patients.