Estudios de la región 5'UTRTR del gen FMR-1 en pacientes con falla ovárica prematura

premature ovarian failure (pof) is a syndrome of multicausal pathogenesis that affects 1% of women before the age of 40. several studies associate the premutation state (cgg repeats increased in number between 50/55 and 200) in the fmr-1 gene and pof. about 4% of pof women have alleles in the fmr-1 gene in the permutation range. an increase above 200 in the number of triplets in this gene causes the fragile x syndrome (fxs). the purpose of the present study was to analyze the 5′untranslated region of the fmr-1 gene in a group of patients from argentina. the region of interest was amplified by pcr from dna samples of 100 pof patients and 145 control women. alleles from controls and patients were grouped in 7 categories according to the number of triplets obtained. we observed that the most frequent number of repeats ranged from 26 to 30 triplets, in both patient and control groups. in the pof group, 5 out of 197 (2.6%) not related alleles presented a number of cgg triplets higher than 50, while only 1 out of 290 (0.34%) was present in controls. all pof patients with a number of cgg repeats higher than 50 presented secondary amenorrhea. these results are in accordance with previous reports from other populations showing an association between the premutation state in the fmr-1 gene and pof development. in addition, these results reinforce the importance of genotyping pof patients to estimate the risk of their offspring for fragile x syndrome.