Avtor/Urednik		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; Geršak, Ksenija; Aittomaeki, Kristiina; et al, ;
Naslov		Inhibin: a candidate gene for premature ovarian failure
Tip		članek
Vir		Hum Reprod
Vol. in št.		Letnik 15, št. 12
Leto izdaje		2000
Obseg		str. 2644-9
Jezik		eng
Abstrakt		Premature ovarian failure (POF) occurs in 1% of all women, and in 0.1% of women under age of 300 years. The mechanisms that give rise to POF are largerly 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 (SSCO) and DNA sequencing, DNA samples were screened from 43 woman with POF for mulÐtations in the three inhibin genes. Two variants were found: a 1032C -->T transition in the INHbetaA gene in one patients, and a 769G -->A transition in the INHalpha gene in three patients. The INHbetaA variant appears to be a polymorphism, as there was no change in the amino acid sequence of the gene product. The INHalpha variant resultes 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 INHalpha 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.
Deskriptorji		OVARIAN FAILURE, PREMATURE FSH INHIBIN INFERTILITY, FEMALE ADULT POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL BASE SEQUENCE POLYMERASE CHAIN REACTION MUTATION