Details

Autor(en) / Beteiligte

• Shelling, Andrew N.
• Burton, Karen A.
• Chand, Ashwini L.
• van Ee, Cynthia C.
• France, John T.
• Farquhar, Cynthia M.
• Milsom, Stella R.
• Love, Donald R.
• Gersak, Ksenija
• Aittomäki, Kristiina
• Winship, Ingrid M.

Titel

Inhibin: a candidate gene for premature ovarian failure

Ist Teil von

• Human reproduction (Oxford), 2000-12, Vol.15 (12), p.2644-2649

Ort / Verlag

Oxford: Oxford University Press

Erscheinungsjahr

2000

Quelle

Oxford Journals 2020 Medicine

Beschreibungen/Notizen

• 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 INHβA gene in one patient, and a 769G→A transition in the INHα gene in three patients. The INHβA variant appears to be a polymorphism, as there was no change in the amino acid sequence of the gene product. The INHα 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 INHα 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.