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:: Volume 27, Number 2 (summer 2017) ::
MEDICAL SCIENCES 2017, 27(2): 105-112 Back to browse issues page
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
Morteza Ghazanfari Jajin1, Shohreh Khatami2, Hadi Mozafari3, Abolfazl Fateh4, Maryam Mobaraki5, Mohammad Taghikhani *6
1- Biochemistry Department, Tarbiat Modares University, Tehran, Iran
2- Associate Professor Biochemistry Department, Pasteur Institute of Iran, Tehran, Iran
3- Assistant Professor‎ Biochemistry Department, Kermanshah University of Medical Sciences, Kermanshah, Iran
4- Assistant Professor‎ ‎Bacteriology Research Group and Microbiology Research Center (MRC), Pasteur Institute of Iran, Tehran, ‎Iran
5- Bacteriology Research Group and Microbiology Research Center (MRC), Pasteur Institute of Iran, Tehran, ‎Iran
6- Professor Bacteriology Research Group, Pasteur Institute of Iran, Tehran, Iran ‎
Abstract:   (275 Views)
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<0.05).‎ Conclusion: According to the results, the measurement of the ACE activity levels can be used as ‎cofactors in diagnosis and as well as an important factor in the monitoring of treatment. Polymorphism ‎I/D with respect to the role of the ACE activity can be effective in increasing the specificity of the ‎experiments.‎ Keywords: Gaucher's disease, Angiotensin converting enzyme (ACE), β- glucocerebrosidase, ‎Polymorphism I/D.‎
Keywords: Gaucher's disease, Angiotensin converting enzyme (ACE), β- glucocerebrosidase, ‎Polymorphism I/D.‎
Full-Text [PDF 298 kb]   (117 Downloads)    
Type of Study: Survey/Cross Sectional/Descriptive | Subject: Cilinical Biochemistry
Received: 2016/12/25 | Accepted: 2017/02/25 | Published: 2017/06/19
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Ghazanfari Jajin M, Khatami S, Mozafari H, Fateh A, Mobaraki M, Taghikhani M. 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. MEDICAL SCIENCES. 2017; 27 (2) :105-112
URL: http://iau-tmuj.ir/article-1-1250-en.html
Volume 27, Number 2 (summer 2017) Back to browse issues page
فصلنامه علوم پزشکی دانشگاه آزاد اسلامی واحد پزشکی تهران Medical Science Journal of Islamic Azad Univesity - Tehran Medical Branch
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