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Scholars Journal of Applied Medical Sciences | Volume-7 | Issue 06
Angiotensin Converting Enzyme Gene Insertion/Deletion and Endothelial Nitric Oxide Synthase Single Nucleotide Gene Polymorphisms among the patients of Essential Hypertension
Dr. Rajagopal V, Dr. Ananthan V
Published: June 30, 2019 | 52 51
DOI: 10.36347/sjams.2019.v07i06.042
Pages: 2238-2244
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Abstract
Angiotensin converting Enzyme (ACE) and Nitric oxide (NO) produced by endothelial nitric oxide synthase (eNOS) plays an important role in maintaining blood pressure homeostasis and vascular integrity. The Insertion/Deletion polymorphism (I/D) in exon 7 of Angiotensin converting Enzyme (ACE) gene and the single nucleotide polymorphism (G894T) in exon 7 of human eNOS gene have been found to be associated with development of essential hypertension in different ethnic populations. The aim was to study the insertion/ deletion (I/D) polymorphism of ACE gene in patients with essential hypertension and the genotype distribution and to determine allelic frequency of ACE gene and also to assess the G894T polymorphism of eNOS gene in patients with essential hypertension and to determine the genotype and mutant allele (‘T’) frequency in them. The target DNA sequence of ACE gene was amplified by Polymerase Chain Reaction (PCR) technique to detect the presence of ACE gene Insertion / Deletion (I/D) polymorphism in 41 patients with essential hypertension. Polymerase chain reaction and restriction fragment analysis was done to detect the presence of (G894T) variant of the eNOS gene in 41 hypertensive patients. The study results showed that the frequency of ACE I/I, D/D I/D genotypes and eNOS GG, GT, TT genotypes were found to be 44%, 27%, 29% and 88%, 12%, 0% respectively. The frequency of insertion (I) and deletion (D) alleles was found to be 58.54% and 41.46%. The study data indicates, the wild I/I genotype and homozygous wild G/G genotype are predominant and the homozygous mutant T/T genotype was not seen in the representative hypertensive subjects. The presence of mutant (T) allele among the studied population was less common only 6.1% and frequency of I allele is increasingly distributed in the studied hypertensive subjects of our study population.