Aurora kinase genetic polymorphisms: an association study in Down syndrome and spontaneous abortion.

Aneuploidies, such as Down syndrome (DS), are the leading cause of pregnancy loss. Abnormalities in aurora kinase proteins result in genomic instability and aneuploidy, mainly in tumors. Thus, polymorphisms in Aurora kinase genes could influence the occurrence of DS and spontaneous abortion.

Dihydrofolate Reductase (DHFR) del19bp Polymorphism and Down Syndrome Offspring.

Down syndrome (DS) is the most common form of mental disability of genetic etiology. Nondisjunction of chromosome 21 is the leading cause of the syndrome. In general, free trisomy 21 cases originate from missegregation in maternal meiosis.

DNA (cytosine-5)-methyltransferase 3B () polymorphism and risk of Down syndrome offspring.

Down syndrome (DS) is the most common form of human genetic mental retardation. Several polymorphisms in genes coding folic acid cycle enzymes have been associated to the risk of bearing a DS child; however, the results are controversial. S-adenosyl-l-methionine (SAM) is an important intermediate of folic acid pathway and acts as methyl donor and substrate for DNA (cytosine-5)-methyltransferase 3B ( - EC 2.

Association of methylenetetrahydrofolate reductase gene 677C > T polymorphism and Down syndrome.

The association between Down syndrome (DS) and maternal polymorphisms in genes encoding folic acid metabolizing enzymes remains a controversial issue. A meta-analysis was performed to evaluate the association of maternal MTHFR 677C > T polymorphism and the risk of having a child with DS. Case-control studies were screened from major literature databases.