Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.
J Assist Reprod Genet. 2011 Mar;28(3):221-4. doi: 10.1007/s10815-010-9503-7. Epub 2010 Nov 10.
We conducted a cross-sectional study to evaluate the linkage of FSHR T307A and N680S in a group of fertile women.
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.
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.
The current data demonstrated an association but failed to demonstrate a complete linkage between these two polymorphisms.
我们进行了一项横断面研究，以评估 FSHR T307A 和 N680S 在一组生育女性中的关联。
从 51 名生育女性中获得外周血。进行 DNA 提取和分离。为了检测 T307A 多态性，使用了一组引物（5′-TCTGAGCTTCATCCAATTTGCA-3′和 5′-GGGAAAGAGGGCA GCTGCAA-3′），然后使用另一组引物（5′-CAAATCTATTTTAAGGCAAGAAGTTGATTATATGCCTCAG-3′和 5′-GTAGATTCCAATGCAGA GATCA-3′）进一步扩增产物。对于 N680S 多态性，使用引物（5′-TTTGTGGTCATCTGTGGCTGC-3′和 5′-CAAAGGCAAGGACTGAATT ATC ATT-3′）。通过 Spearman 检验对多态性之间的关联进行统计分析。
我们计算了密码子 307 和 680 处的同型合子 T/T-S/S 和 A/A-N/N 之间的关联。在密码子 680 处的基因型结果与密码子 307 处的基因型结果之间发现了显著的关联（r = 0.6363，P = 0.001）。然而，由于在密码子 307 和 680 处的预期 A-N/T-S 处存在 12 名患者的结果不一致，因此拒绝了这两种多态性之间的完全连锁关系。
当前的数据显示了关联，但未能证明这两种多态性之间的完全连锁关系。
