TY - JOUR T1 - Evaluation of serum angiotensin converting enzyme (ACE) activity ‎in type 1 Gaucher’s patient and its relationship to ACE gene ‎insertion/deletion in intron 16‎ TT - ارزیابی فعالیت سرمی آنزیم مبدل آنژیوتانسین در بیماران ایرانی مبتلا به گوشه ‌نوع 1 و‎ ‎ارتباط آن با حذف و الحاق (‌I/D‌) در اینترون 16ژن آنزیم مبدل ‌آنژیوتانسین (‌ACE‌) ‌ JF - iau-tmuj JO - iau-tmuj VL - 27 IS - 2 UR - http://tmuj.iautmu.ac.ir/article-1-1250-en.html Y1 - 2017 SP - 105 EP - 112 KW - Gaucher's disease KW - Angiotensin converting enzyme (ACE) KW - β- glucocerebrosidase KW - ‎Polymorphism I/D.‎ N2 - Background: Gaucher's disease is an autosomal recessive disease which is the result of mutations in ‎the β glucocerebrosidase gene. The aim of this study was to evaluate activity level of ACE enzyme ‎Iranian patients with Gaucher’s disease type I, and also polymorphism I/D in intron 16‎‌ ‌of ACE gene, as ‎a marker in diagnosis and monitoring of disease. ‎ Materials and methods:‎‌ ‌The experiments were performed on 29 patients (mean age of 10.04 years) ‎and 60 healthy subjects (mean age of 7.31 years). Procedures included DNA extraction from blood, ‎detection of polymorphism I/D by PCR and evaluation of activity level of ACE enzyme.‎ Results:‎‌ ‌The mean of ACE activity was 231.07 U/L which was increased 4 times than normal status ‎‎(56.03 U/L). Evaluation of polymorphism I/D of the 29 patients showed t6 (20.7%) II, 9 (31%) DD and ‎‎14 (48.3%) ID (p M3 ER -