title: [Insertion-deletion polymorphism of the angiotensin converting enzyme gene and its relationship to serum levels of free amino acids in the patients with connective tissue dysplasias].
abstract: An association between insertion/deletion polymorphism (IDP) of the Alu repeat in intron 16 of the angiotensin I-converting enzyme (ACE) gene and the serum free amino acid levels in the patients with connective tissue dysplasias was examined. Genotyping of 102 patients (25 II, 51 ID, and 26 DD) was performed using PCR. Serum free amino acids levels in these patients were determined by use of HPLC technique. A statistically significant increase of the leucine-isoleucine (P < 0.05) and phenylalanine (P < 0.01) levels in deletion homozygous patients (DD) relative insertion homozygous (II) patients was observed. The differences in respect of other amino acids were not detected. These findings point to the importance of registration of IDP in the ACE gene at dietary therapy of such patients, as well as in the individual choice of medical preparations containing the amino acids mentioned.
mesh_terms: D000293:Adolescent; D000328:Adult; D000596:Amino Acids / Q000097:blood*; D002648:Child; D002675:Child, Preschool; D003238:Connective Tissue / Q000473:pathology*; D003240:Connective Tissue Diseases / Q000097:blood / Q000235:genetics* / Q000473:pathology; D005260:Female; D006720:Homozygote; D006801:Humans; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D011110:Polymorphism, Genetic; D017384:Sequence Deletion
chemical_list: D000596:Amino Acids; D007703:Peptidyl-Dipeptidase A