title: Phosphoglucomutase 1 (PGM1) subtypes and ESD types in mothers and newborns from the island of Tasmania, Australia.
abstract: PGM1 subtypes and ESD phenotypes of 600 mothers and their respective newborn infants residing in the northern part of the island of Tasmania were examined. The allele frequencies of PGM1 in the mothers were 1+ = 0.6525, 1- = 0.1250, 2+ = 0.1758 and 2- = 0.0467, and in the newborns were 1+ = 0.6675, 1- = 0.1275, 2+ = 0.01600 and 2- = 0.0450. Both samples were found to exhibit Hardy-Weinberg equilibrium conditions and there was no significant difference between them. Also, the frequencies of PGM1 alleles were overall similar to frequencies in neighbouring populations on the Australian mainland. The frequency of ESD*2 in both samples was similar (0.105) but the mothers' genotypes were not in Hardy-Weinberg equilibrium (due to an excess of type 2). The ESD allele frequencies in Tasmania are similar to those reported in other white Australian populations.
authors.affiliation: Department of Genetics and Human Variation, La Trobe University, Bundoora, Australia.
authors.forename: R J
authors.initials: RJ
authors.lastname: Mitchell
authors.forename: J
authors.initials: J
authors.lastname: Moore
authors.forename: G
authors.initials: G
authors.lastname: Koerbin
mesh_terms: D000483:Alleles; D043182:Carboxylesterase; D002265:Carboxylic Ester Hydrolases / Q000235:genetics*; D005787:Gene Frequency; D005819:Genetic Markers; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D007527:Isoenzymes / Q000235:genetics*; D008393:Marriage; D009035:Mothers; D010733:Phosphoglucomutase / Q000235:genetics*; D013648:Tasmania; D006113:United Kingdom / Q000208:ethnology; D044465:White People / Q000235:genetics
chemical_list: D005819:Genetic Markers; D007527:Isoenzymes; D002265:Carboxylic Ester Hydrolases; D043182:Carboxylesterase; C020118:ESD protein, human; D010733:Phosphoglucomutase