title: Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF).
abstract: Diverse mutations in FSH-receptor (FSHR) gene have been described as possible cause of premature ovarian failure (POF). To investigate the presence of mutations and/or polymorphisms in FSHR gene, DNA from 20 POF, 5 of which were diagnosed as resistant ovary syndrome (ROS), and from 44 controls was isolated from peripheral lymphocytes. The complete coding sequence was analysed by PCR followed by SSCP, direct sequencing or restriction enzyme analysis. No mutations in FSHR gene were identified in the patients studied. The two already described polymorphisms in exon 10, A919G and A2039G, cosegregated in all the homozygous individuals, indicating that FSHR presents two isoforms: Ala307-Ser680 and Thr307-Asn680. OR results suggest that the 919G-2039G allelic variant or the homozygous genotype is not associated to disease risk. In addition, a heterozygous substitution T1022C (Val341Ala) was found in two control subjects. We suggest that mutations in FSHR gene are rare in women with POF in Argentine. Presence of a particular FSHR isoform does not appear to be associated with this disease.
authors.affiliation: Instituto de Biología y Medicina Experimental (IBYME), Vuelta de Obligado 2490, C1428ADN Buenos Aires, Argentina. sundblad@dna.uba.ar
authors.forename: Victoria
authors.initials: V
authors.lastname: Sundblad
authors.forename: Violeta A
authors.initials: VA
authors.lastname: Chiauzzi
authors.forename: Maria Eugenia
authors.initials: ME
authors.lastname: Escobar
authors.forename: Liliana
authors.initials: L
authors.lastname: Dain
authors.forename: Eduardo H
authors.initials: EH
authors.lastname: Charreau
mesh_terms: D000293:Adolescent; D000328:Adult; D001118:Argentina / Q000453:epidemiology; D016022:Case-Control Studies; D005091:Exons; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008214:Lymphocytes; D008403:Mass Screening; D009154:Mutation / Q000235:genetics*; D010053:Ovary / Q000378:metabolism; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D018807:Polymorphism, Single-Stranded Conformational; D016649:Primary Ovarian Insufficiency / Q000097:blood / Q000453:epidemiology / Q000235:genetics*; D011962:Receptors, FSH / Q000235:genetics*; D012307:Risk Factors
chemical_list: D011962:Receptors, FSH