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Human Reproduction, Vol. 15, No. 12, 2644-2649, December 2000
© 2000 European Society of Human Reproduction and Embryology

Inhibin: a candidate gene for premature ovarian failure

Andrew N. Shelling1,7, Karen A. Burton1, Ashwini L. Chand1, Cynthia C. van Ee1, John T. France1, Cynthia M. Farquhar1, Stella R. Milsom2, Donald R. Love3, Ksenija Gersak5, Kristiina Aittomäki6 and Ingrid M. Winship4

1 Research Centre in Reproductive Medicine, Department of Obstetrics and Gynaecology and 2 Fertility PLUS, National Women's Hospital, Auckland, 3 School of Biological Sciences and 4 Department of Molecular Medicine, University of Auckland, Auckland, New Zealand, 5 Department of Obstetrics and Gynecology, University Medical Centre, Ljubljana, Slovenia and 6 Department of Clinical Genetics, Helsinki University Central Hospital, Helsinki, Finland

Premature ovarian failure (POF) occurs in 1% of all women, and in 0.1% of women under the age of 30 years. The mechanisms that give rise to POF are largely unknown. Inhibin has a role in regulating the pituitary secretion of FSH, and is therefore a potential candidate gene for ovarian failure. Using single-stranded conformation polymorphism (SSCP) and DNA sequencing, DNA samples were screened from 43 women with POF for mutations in the three inhibin genes. Two variants were found: a 1032C->T transition in the INHßA gene in one patient, and a 769G->A transition in the INH{alpha} gene in three patients. The INHßA variant appears to be a polymorphism, as there was no change in the amino acid sequence of the gene product. The INH{alpha} variant resulted in a non-conservative amino acid change, with a substitution from alanine to threonine. This alanine is highly conserved across species, and has the potential to affect receptor binding. The INH{alpha} variant is significantly associated with POF (3/43 patients; 7%) compared with control samples (1/150 normal controls; 0.7%) (Fisher's exact test, P < 0.035). Further analysis of the inhibin gene in POF patients and matched controls will determine its role in the aetiology of POF.

Key words: infertility/inhibin/mutation detection/ovarian failure/premature

7 To whom correspondence should be addressed at: Research Centre in Reproductive Medicine, Department of Obstetrics and Gynaecology, National Women's Hospital, Auckland, New Zealand. E-mail: a.shelling{at}auckland.ac.nz


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