Avtor/Urednik		Watkins, Wendy J; Harris, Sarah E; Craven, Megan J; Vincent, Andrea L; Winship, Ingrid M; Geršak, Ksenija; Shelling, Andrew N
Naslov		An investigation into FOXE1 polyalanine tract length in premature ovarian failure
Tip		članek
Vir		Mol Hum Reprod
Vol. in št.		Letnik 12, št. 3
Leto izdaje		2006
Obseg		str. 145-9
Jezik		eng
Abstrakt		Premature ovarian failure (POF) is a common condition affecting 1% of women worldwide. There is strong evidence for genetic involvement in POF as many cases are familial, and mutations in several genes have been associated with POF. We investigated variation in FOXE1 polyalanine tract length, following the observation that polyalanine tract deletions are seen in the closely related FOXL2 in patients with POF. In addition, polyalanine tract expansions in FOXL2 are often seen in patients with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES), a rare eyelid disorder often associated with POF. The FOXE1 polyalanine tract shows marked variation in its length between POF patients and normal controls, existing as an allele of 12, 14, 16, 17 or 19 alanine residues. We found evidence to suggest that variation in FOXE1 polyalanine tract length predisposes to POF.
Deskriptorji		OVARIAN FAILURE, PREMATURE BLEPHAROPHIMOSIS BLEPHAROPTOSIS HAPLOTYPES POLYMERASE CHAIN REACTION SEQUENCE ANALYSIS, DNA CHROMATOGRAPHY, HIGH PRESSURE LIQUID