ABSTRACT
The angiotensin converting enzyme (ACE) is a strong candidate gene for myocardial infarction (MI). Insertion-deletion dimorphism in intron 16 of this gene has been inconclusively found to be associated with it. Several new polymorphisms in the ACE gene have been identified and among these, a dimorphism in exon 17, ACE G2350A, has a significant effect on plasma ACE concentrations. To assess the value of genotyping the ACE G2350A dimorphism in a genetically homogeneous population, we carried out a case-control study of dimorphism G2350A for a putative association with MI among Pakistani nationals. We investigated a sample population of 370 Pakistanis, comprising 163 controls, and 207 patients with clinical diagnosis of acute MI (AMI). ACE G2350A alleles were visualized by assays based on polymerase chain reaction and restriction endonuclease analysis. Frequencies of G alleles were 0.68 among controls and 0.72 among AMI patients. The ACE G2350A dimorphism showed no significant association with MI (c2=0.90, 2 df, P=0.64), plasma levels of homocysteine (P=0.52) or with serum levels of folate (P=0.299). The results indicate that ACE G2350A polymorphism is not associated with risk of myocardial infarction in the Pakistani population investigated here.
Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Exons/genetics , Genetic Predisposition to Disease , Genetics, Population , Genotype , Mutation , Myocardial Infarction/blood , Peptidyl-Dipeptidase A/blood , Polymorphism, Genetic , Predictive Value of TestsABSTRACT
Six female and two male children of UAE nationality who suffer from cystic fibrosis are presented. They have severe systemic disease and pancreatic insufficiency. All but the youngest had severe lung disease. Sweat electrolyte levels are grossly elevated. CF appears to be a more common disease in this country than has been previously recognised and the clinical presentation is in keeping with a major gene mutation