TRANSCRIPTOME 2002: From Functional Genomics to Systems Biology
March 10-13, 2002
Seattle, Washington, USA


Assessment of Candidate Genes for Fetal Alcohol Syndrome

Mshengu E. Tshabalala, Michele Ramsay and Denis Viljoen, Department of Human Genetics, The South African Institute for Medical Research and School of Pathology, University of Witwatersrand, SOUTH AFRICA

Assessment of Candidate Genes for Fetal Alcohol syndrome Considerable variation in offspring outcome is observed after intrauterine alcohol expo-sure. The underlying mechanisms may include genetic diversity in the enzymes responsible for alcohol metabolism. Several genetic polymorphism differences have been ob-served in enzymes involved in alcohol metabolism including the alcohol dehydrogenase-2 (ADH2); alcohol dehydrogenase-3 (ADH3); and aldehyde dehydrogenase-2 (ALDH2) genes. The variant alleles code for enzymes that are >30-fold different in their kinetic properties and metabolic effects. Previous studies from the Western Cape Province have shown that the ADH2*2 allele has a protective effect against FAS among individuals of mixed ancestry. The aim of this study is to ascertain families with fetal alcohol syn-drome (FAS) and to study the potential involvement of candidate genes including the ADH2, ADH3, ALDH2 and CYP2E1 loci in FAS by determining and comparing frequencies of the alleles in subjects and controls. Genotyping for ADH2, ADH3, ALDH2 and CYP2E1 loci will be done in 50 mother-FAS child pairs as well as in 50 black, 50-mixed ancestry and 50 white control subjects. Several methods will be used including the PCR followed by restriction-enzyme digestion.  The allele frequencies in the mixed ancestry population will give an indication of the contributions from the black and white population to the mixed ancestry gene pool and may provide insight into the origins of susceptible and protective alleles.

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