Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency
Abstract
:1. Introduction
2. Materials and Methods
2.1. Ethical Approval
2.2. Patients and Controls
2.3. PCR and Sequencing
2.4. Southern Blot
2.5. Statistical Analyses
3. Results
3.1. Distribution and Allele Frequencies of FMR1 Repeats
3.2. Distribution and Allele Frequencies of FMR2 Repeats and Sequencing
4. Discussion
5. Conclusions
Acknowledgments
Author Contributions
Conflicts of Interest
References
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Range of Intermediate and Premutation Alleles | Percentage (95% CI) of POI Patients (n = 133) | Percentage (95% CI) of Controls (n = 84) | |
---|---|---|---|
Sporadic (n = 103) | Familial (n = 30) | ||
35–54 | * 12.6% (7–21%) | 3.3% (0–5.3%) | 14.3% (7.6–23%) |
41–58 | 5.8% (2–12%) | 0.0% (0–4.0%) | 8.3% (3.4–16%) |
58–109 | 2.9% (0.8–8.3%) | 6.7% (0.24–6.8%) | 1.2% (0.03–6.4%) |
FMR2 Minimum Alleles | Percentage (95%CI) of POI Patients (n = 133) | Percentage (95%CI) of Controls (n = 84) | |
---|---|---|---|
Sporadic (n = 103) | Familial (n = 30) | ||
9 | 0.0% (0–3.5%) | 0.0% (0.0–11.6%) | 2.4% (0.29–8.3%) |
10 | 1.0% (0.02–5.3%) | 6.7% (0.81–22.1%) | 0.0% (0.0–4.3%) |
11 | 0.0% (0–3.5%) | 0.0% (0.0–11.6%) | 1.2% (0.03–6.5%) |
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Espeche, L.D.; Chiauzzi, V.; Ferder, I.; Arrar, M.; Solari, A.P.; Bruque, C.D.; Delea, M.; Belli, S.; Fernández, C.S.; Buzzalino, N.D.; et al. Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. Genes 2017, 8, 194. https://doi.org/10.3390/genes8080194
Espeche LD, Chiauzzi V, Ferder I, Arrar M, Solari AP, Bruque CD, Delea M, Belli S, Fernández CS, Buzzalino ND, et al. Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency. Genes. 2017; 8(8):194. https://doi.org/10.3390/genes8080194
Chicago/Turabian StyleEspeche, Lucía Daniela, Violeta Chiauzzi, Ianina Ferder, Mehrnoosh Arrar, Andrea Paula Solari, Carlos David Bruque, Marisol Delea, Susana Belli, Cecilia Soledad Fernández, Noemí Delia Buzzalino, and et al. 2017. "Distribution of FMR1 and FMR2 Repeats in Argentinean Patients with Primary Ovarian Insufficiency" Genes 8, no. 8: 194. https://doi.org/10.3390/genes8080194