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

Details

Serval ID
serval:BIB_C37E0D3640A1
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Enzyme polymorphism and clinical variability of diseases: a study of diabetes mellitus.
Journal
Human Biology
Author(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
Publication state
Published
Issued date
1989
Peer-reviewed
Oui
Volume
61
Number
4
Pages
571-589
Language
english
Notes
Publication types: Journal Article ; Research Support, Non-U.S. Gov't Publication Status: ppublish
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.
Keywords
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
Create date
11/02/2015 11:43
Last modification date
20/08/2019 16:38
Usage data