Mol. Hum. Reprod. Advance Access originally published online on August 6, 2004
Molecular Human Reproduction 2004 10(10):763-766; doi:10.1093/molehr/gah098
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Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations
Departments of 1Physiology and 2Medical Genetics, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland, 3Department of Clinical Biochemistry, Statens Serum Institute, DK-2300 Copenhagen, Denmark, 4Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College, Hammersmith Campus, Du Cane Road, London W12 0NN, UK, 5Institute of Reproductive Medicine, University of Münster, D-48129 Münster, Germany and 6Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece
8 To whom correspondence should be addressed at: Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland. Email: min.jiang{at}utu.fi
Chorionic gonadotropin (CG) is an essential signal in establishment and maintenance of pregnancy in humans and higher primates. A G-to-A transition in exon 3 of human CGß gene 5, changing the naturally occurring valine residue to methionine in codon 79 (Val79Met) has been reported at carrier frequency 4.2% in a random population from the Midwest of the United States. The biological activity of the variant hCG was similar to that of wild-type (WT) hCG. However, the Val79Met ß-subunit displayed impaired ability to assemble with 
-subunit, and the amount of hCG /ß heterodimers formed and secreted by transfected cells was seriously impaired in the previous study. Because of these functional implications we found it important to study the occurrence of the Val79Met hCGß variant in other populations. By using a PCR–RFLP method, a search for the Val79Met hCGß variant was carried out on a total of 580 DNA samples from five European populations (Finland, Denmark, Greece, Germany and the UK). The results demonstrated an absence of the polymorphism in these populations. Hence, the naturally occurring variant (Val79Met) of the hCGß gene 5, found previously at high frequency in the US, is clearly less common, or absent, in the European populations studied.
Key words: genetic variant/hCGß5/PCR
7 Present address: Department of Neonatology, Rigshospitalet, DK-2100 Copenhagen, Denmark
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