Enzyme polymorphism and clinical variability of diseases: a study of diabetes mellitus.

Détails

ID Serval
serval:BIB_C37E0D3640A1
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Enzyme polymorphism and clinical variability of diseases: a study of diabetes mellitus.
Périodique
Human Biology
Auteur(s)
Gloria-Bottini F., Gerlini G., Lucarini N., Borgiani P., Gori M.C., Amante A., Bottini E.
ISSN
0018-7143 (Print)
ISSN-L
0018-7143
Statut éditorial
Publié
Date de publication
1989
Peer-reviewed
Oui
Volume
61
Numéro
4
Pages
571-589
Langue
anglais
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
Résumé
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.
Mots-clé
Diabetes Mellitus/diagnosis, Diabetes Mellitus/enzymology, Female, Humans, Hydrolases/genetics, Hydrolases/metabolism, Infant, Newborn, Maternal-Fetal Exchange, Phenotype, Phosphotransferases/genetics, Phosphotransferases/metabolism, Polymorphism, Genetic, Pregnancy, Pregnancy in Diabetics/diagnosis, Pregnancy in Diabetics/enzymology
Pubmed
Web of science
Création de la notice
11/02/2015 11:43
Dernière modification de la notice
03/03/2018 21:11
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