Author/Editor		Watkins, Wendy J; Harris, Sarah E; Craven, Megan J; Vincent, Andrea L; Winship, Ingrid M; Geršak, Ksenija; Shelling, Andrew N
Title		An investigation into FOXE1 polyalanine tract length in premature ovarian failure
Type		članek
Source		Mol Hum Reprod
Vol. and No.		Letnik 12, št. 3
Publication year		2006
Volume		str. 145-9
Language		eng
Abstract		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.
Descriptors		OVARIAN FAILURE, PREMATURE BLEPHAROPHIMOSIS BLEPHAROPTOSIS HAPLOTYPES POLYMERASE CHAIN REACTION SEQUENCE ANALYSIS, DNA CHROMATOGRAPHY, HIGH PRESSURE LIQUID