Mol. Hum. Reprod. Advance Access published online on August 6, 2004
Molecular Human Reproduction, doi:10.1093/molehr/gah098
© 2004 by Oxford University Press
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1 Department of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland
* To whom correspondence should be addressed. E-mail: 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 CG 7Present address: Department of Neonatology, Rigshospitalet, DK-2100 Copenhagen, Denmark
Accepted July 13, 2004
Article
Absence of the genetic variant Val79Met in human chorionic gonadotropin-beta gene 5 in five European populations
2 Department of Medical Genetics, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland
3 Department of Clinical Biochemistry, Statens Serum Institute, DK-2300 Copenhagen, Denmark
4 Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College, Hammersmith Campus, Du Cane Road, London W12 0NN, UK
5 Institute of Reproductive Medicine, University of Münster, D-48129 Münster, Germany
6 Department of Medical Therapeutics, Athens University School of Medicine, Athens, Greece
7 Departments of Physiology, Institute of Biomedicine, University of Turku, Kiinamyllynkatu 10, 20520 Turku, Finland; Institute of Reproductive and Developmental Biology, Faculty of Medicine, Imperial College, Hammersmith Campus, Du Cane Road, London W12 0NN, UK
Abstract 
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 -subunit displayed impaired ability to assemble with 
-subunit, and the amount of hCG / 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 hCG variant in other populations. By using a PCR-RFLP method, a search for the Val79Met hCG 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 hCG gene 5, found previously at high frequency in the US, is clearly less common, or absent, in the European populations studied.5; PCR.
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