Phosphoglucomutase and haptoglobin phenotypes among Australian Caucasians

This report describes the response to a legal inquiry into the frequency of combined phenotypes phosphoglucomutase-1 (PGM 1) 2+1+ and haptoglobin (Hp) 1–1 in the general population of Australian Caucasians. The data employed is based on isoelectric focusing studies of PGM 1 subtypes in two independent samples of Australian Caucasians as well as on published Hp results, giving frequencies of PGM 1 alleles 1 + = 0·609, 1– = 0.137. 2 + =0·194 and 2– = 0·060, Hp 1 = 0·391 and Hp 2 = 0·609; the frequency of occurrence of combined phenotypes PGM 2+1+ and Hp 1–1 is 3·8 per cent. The report also discussed a convenient method to build a data base of frequencies of gene markers for use in criminal and civil investigations and compares it with a well-designed study which examines population samples individually and systematically for a series of polymorphisms as well as one which accumulates such information over a period of years. The comparison highlights some advantages and disadvantages in these approaches and concludes with a proposal for further studies.