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Title

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

Pages

 Start Page 105 | End Page 112

Keywords

ANGIOTENSIN CONVERTING ENZYME (ACE)Q1

Abstract

 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.‎

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