title: Enzyme polymorphism and clinical variability of diseases: a study of diabetes mellitus.
abstract: We investigated possible relations among four common neonatal manifestations of diabetic pregnancy (macrosomia, hypoglycemia, hypocalcemia, jaundice) and four enzyme polymorphisms (PGM1, ADA, AK1, ACP1 in a sample of infants born of diabetic mothers. The pattern of associations observed between the two sets of variables is consistent with known differences in enzymatic activity within phenotypes of each system, suggesting that low enzymatic activity may have unfavorable effects on fetal development and on adaptability of the neonate to the extrauterine environment, Some of the polymorphic enzymes studied influence fetal growth in normal pregnancy as well. Analysis of relations between genetic polymorphisms and the clinical pattern of common diseases may provide a better understanding of the genetic basis of the clinical variability of diseases within and between human populations.
authors.forename: F
authors.initials: F
authors.lastname: Gloria-Bottini
authors.forename: G
authors.initials: G
authors.lastname: Gerlini
authors.forename: N
authors.initials: N
authors.lastname: Lucarini
authors.forename: P
authors.initials: P
authors.lastname: Borgiani
authors.forename: M C
authors.initials: MC
authors.lastname: Gori
authors.forename: A
authors.initials: A
authors.lastname: Amante
authors.forename: E
authors.initials: E
authors.lastname: Bottini
mesh_terms: D003920:Diabetes Mellitus / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D006867:Hydrolases / Q000235:genetics / Q000378:metabolism; D007231:Infant, Newborn; D008431:Maternal-Fetal Exchange; D010641:Phenotype; D010770:Phosphotransferases / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011254:Pregnancy in Diabetics / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics*
chemical_list: D010770:Phosphotransferases; D006867:Hydrolases