Genetic predisposition to the development of congenital heart diseases: Role of xenobiotic biotransformation genes.

Congenital heart diseases are one of the most common multi-factorial fetal abnormalities caused by a complex of endo- and exogenous factors. It is known that mutations in xenobiotic biotransformation genes can be associated with the pathogenesis of congenital heart diseases. In the presented research, 131 children with congenital heart diseases and 101 women having children with this pathology were included in the study group.

Polymorphisms in folate-metabolizing genes and risk of having an offspring with congenital anomalies in the West Siberian region of Russia: a case-control study.

Objective: Periconceptional folate supplementation prevents a number of congenital anomalies (CA). The aim of our study was to investigate the association of 11 polymorphisms in the folate-metabolizing genes with the risk of having an offspring with CA in the Russian ethnic group.

Method: We genotyped 280 mothers having a CA-affected pregnancy and 390 control mothers.

Mechanisms of HLA DR Gene Selection in Early Ontogenesis.

Hypothesis explaining the cause of MHC gene frequency variation in two consecutive generations is presented. The four stages of MHC genes selection is postulated: gamete processing, reaction of fertilization, preimplatation and implatation embryos survival, postnatal selection. On the stage of gametogenesys different adaptivity of germ cells is connected with MHC alleles.

Effect of Immune Interactions in Mother-Fetus System on Formation of Immune Response to Main Vaccinal Antigens.

Immune disturbances in the mother-fetus system are transformed to the postnatal period in the form of different kinds of immune pathology. Do these disturbances have an effect on the formation of postvaccinal immune response? A study was made in 81 children who were 14 months old. The immune response to diphtheria and measles antigen in those children was studied in the passive hemagglutination reaction.

Genetic Aspects of Immunopathology in Prenatal and Postnatal Period.

The development of immunopathology in prenatal and postnatal periods has been studied with special refer to immune interaction character in mother-fetus system and inherited HLA DR genes. The immune variant of customary recurrent abortion has been shown to be associated with the HLA DR2 and HLA DR6 genes, with poor immune recognition of fetus HLA antigens and absence of serum suppressive factors in women. The distorted immune interactions with HLA antigens in the mother-fetus system are transformed into the neonatal period as purulent-septic diseases and hemolytic disease of the newborns.