Mutation analysis of FOXL2 gene in Chinese patients with premature ovarian failure.
Premature ovarian failure (POF) has recently been associated with mutations in Forkhead L2 (FOXL2) gene, which also being a candidate for blepharophimosis-ptosis-epicanthus inversus (BPES) syndrome. In the current study, we performed a screening analysis by polymerase chain reaction and direct sequencing in 118 patients, including one with BPES and her family of six members. The results came back with no novel mutations but one common 30 bp duplication within FOXL2 polyalanine tract in the abovementioned POF plus BPES patient, suggesting mutations in FOXL2 gene was not common among Chinese patients with POF.
Ni
Feng
F
Reproductive Medicine Center, The First Affiliated Hospital, Anhui Medical University, Hefei, China.
Wen
Qiaolian
Q
Wang
Binbin
B
Zhou
Sirui
S
Wang
Jing
J
Mu
Yuan
Y
Ma
Xu
X
Cao
Yunxia
Y
D016569:Blepharophimosis / Q000235:genetics; D001763:Blepharoptosis / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D013577:Syndrome
C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors