• PMID: 21063764
• Gene Name: FSHR
• Condition: Female fertility
• Association: The study calculated the association between the homozygosis at codon 307 and at codon 680 both for T/T-S/S and A/A-N/N. A significant association between the genotypic results at codon 680 with those at codon 307 was found . However, a complete linkage b
• Mutation: FSHR T307A and N680S
• Population size: 51
• Population details: 51 fertile women
• Sex: Female
• Infertility type: Male infertility
• Other associated phenotypes: Female infertility

There is no complete linkage between the polymorphisms N680S and T307A of the follicular stimulating hormone receptor gene in fertile women

Rodini GP, Genro VK, Matte U, Pereira FS, Bilibio JP, Greggianin C, Souza CA, Cunha-Filho JS.

PURPOSE: We conducted a cross-sectional study to evaluate the linkage of FSHR T307A and N680S in a group of fertile women. METHODS: Peripheral blood was obtained from 51 fertile women. DNA extraction and isolation were performed. For the detection of the T307A polymorphism a set of primers (5_-TCTGAGCTTCATCCAATTTGCA-3_and 5_-GGGAAAGAGGGCA GCTGCAA-3) was used and then the product was further amplified by a second PCR-RFLP using another set of primers (5_-CAAATCTATTTTAAGGCAAGAAGTTGATTATATGCCTCAG-3_and 5_-GTAGATTCCAATGCAGA GATCA-3). For the N680S polymorphism the primers (5_-TTTGTGGTCATCTGTGGCTGC-3_ and 5_-CAAAGGCAAGGACTGAATT ATC ATT-3_) were used. Statistical analysis for the association between the polymorphisms was performed by the Spearman test. RESULTS: We calculated the association between the homozygosis at codon 307 and at codon 680 both for T/T-S/S and A/A-N/N. A significant association between the genotypic results at codon 680 with those at codon 307 was found (r = 0.6363, P = 0.001). However, a complete linkage between these two polymorphisms was rejected as there were 12 patients with discordant results from the expected A-N/T-S at codons 307 and 680, respectively. CONCLUSION: The current data demonstrated an association but failed to demonstrate a complete linkage between these two polymorphisms. FAU - Rodini, Gustavo P AU - Rodini GP AD - Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil. FAU - Genro, Vanessa K AU - Genro VK FAU - Matte, Ursula AU - Matte U FAU - Pereira, Fernanda S AU - Pereira FS FAU - Bilibio, João Paolo AU - Bilibio JP FAU - Greggianin, Camila AU - Greggianin C FAU - Souza, Carlos A B AU - Souza CA