We have described previously in the Finnish population an inactivating point mutation (566C-T) in the human FSH receptor (FSHR) gene.
In women, this mutation causes hypergonadotropic ovarian failure with arrest of follicular maturation and infertility, whereas in men, there is variable suppression of spermatogenesis, but no absolute infertility.
To determine whether the same FSHR mutation occurs in other populations, its frequency was determined in Finland, Switzerland, Denmark, and the Chinese population of Singapore.
The mutation was screened for using genomic DNA extracted from whole blood or dried blood spots.
Exon 7 ofthe FSHR gene was first amplified using a pair of biotinylated primers.
The PCR products were then immobilized on streptavidin-coated microtitration wells and hybridized using short allele-specific oligonucleotide probes labeled with europium.
Time-resolved fluorometry was used for europium signal detection.
To test the reliability of this method, 40 isolated DNA samples and 35 dried blood spot samples were blindly tested for the 566 C-T FSHR mutation.
The analyses yielded identical results with denaturing gradient gel electrophoresis and allele-specific restriction enzyme digestion of the same samples, thus demonstrating the reliability of the tested method.
Automation of this procedure allows the screening of large numbers of samples, which was subsequently carried out to investigate the frequency of the 566C-T mutation in the study populations. (...)
Mots-clés Pascal : FSH, Récepteur hormonal, Gène, Mutation ponctuelle, Epidémiologie, Fréquence, Etude comparative, Finlande, Europe, Danemark, Suisse, Singapour, Asie, Homme, Gonadotrophine, Hormone adénohypophysaire, Hormone glycoprotéine
Mots-clés Pascal anglais : Follicle stimulating hormone, Hormonal receptor, Gene, Point mutation, Epidemiology, Frequency, Comparative study, Finland, Europe, Denmark, Switzerland, Singapore, Asia, Human, Gonadotropin, Adenohypophyseal hormone, Glycoprotein hormone
Notice produite par :
Inist-CNRS - Institut de l'Information Scientifique et Technique
Cote : 99-0051007
Code Inist : 002B30A01A2. Création : 31/05/1999.