title: Screening for FOXL2 gene mutations in women with premature ovarian failure: an Indian experience.
abstract: Premature ovarian failure (POF) occurs in 1% of the general population and affects approximately 10% of non-ovulating women, resulting in infertility and sex steroid deficiency. The forkhead domain transcription factor (FOXL2) gene is one of the candidate genes associated with POF. This case-control study was designed for mutational analysis of the coding region of the FOXL2 gene in 80 cases of POF patients, 50 controls and 17 family members of 11 index cases using restriction fragment length polymorphism, single-stranded conformational polymorphism, heteroduplex analysis and direct DNA sequencing. A 738C-->T transition and a 773C-->G transversion were detected in two of the 80 patients and a family member of one index case, but in none of the 50 controls screened. No other alterations in the coding region of FOXL2 gene were detected. These data suggest that FOXL2 gene mutations are a rare occurrence in isolated POF cases and may not be involved in the pathogenesis of POF.
authors.affiliation: Department of Reproductive Endocrinology and Infertility, Parel, Mumbai 400012, India.
authors.forename: Suparna
authors.initials: S
authors.lastname: Chatterjee
authors.forename: Deepak
authors.initials: D
authors.lastname: Modi
authors.forename: Anurupa
authors.initials: A
authors.lastname: Maitra
authors.forename: Seema
authors.initials: S
authors.lastname: Kadam
authors.forename: Zarine
authors.initials: Z
authors.lastname: Patel
authors.forename: Jyotsna
authors.initials: J
authors.lastname: Gokrall
authors.forename: Pervin
authors.initials: P
authors.lastname: Meherji
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D004252:DNA Mutational Analysis; D005260:Female; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors / Q000235:genetics*; D020180:Heteroduplex Analysis; D006801:Humans; D007194:India; D017354:Point Mutation; D018807:Polymorphism, Single-Stranded Conformational; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
chemical_list: C421604:FOXL2 protein, human; D000074842:Forkhead Box Protein L2; D051858:Forkhead Transcription Factors