Screening of FSH receptor gene in Argentine women with premature ovarian failure (POF)

• Published in: Molecular and cellular endocrinology Vol. 222; no. 1; pp. 53 - 59
• Main Authors: Sundblad, Victoria, Chiauzzi, Violeta A, Escobar, Maria Eugenia, Dain, Liliana, Charreau, Eduardo H
• Format: Journal Article
• Language: English
• Published: Ireland Elsevier Ireland Ltd 30.07.2004
• Subjects: Adolescent; Adult; Argentina - epidemiology; Case-Control Studies; Exons; Female; FSH-receptor gene; Genotype; Heterozygote; Homozygote; Humans; Lymphocytes; Mass Screening; Mutation - genetics; Ovary - metabolism; Polymerase Chain Reaction; Polymorphism, Genetic; Polymorphism, Single-Stranded Conformational; Premature ovarian failure; Primary Ovarian Insufficiency - blood; Primary Ovarian Insufficiency - epidemiology; Primary Ovarian Insufficiency - genetics; Receptors, FSH - genetics; Resistant ovary syndrome; Risk Factors; Argentina; Resistant ovary syndrome; FSH-receptor gene; Premature ovarian failure
• ISSN: 0303-7207; 1872-8057
• DOI: 10.1016/j.mce.2004.05.002

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: Ala 307–Ser 680 and Thr 307–Asn 680. 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.