Premature ovarian failure and fragile X female premutation carriers

• DOI: 10.1097/gme.0b013e3181a06a37
• Publication Date: 2009-08-29T07:14:00Z
• Authors: Laia Rodriguez-Re...; Irene Madrigal; Celia Badenas; Mar Xunclà; Loli Jiménez; Montserrat Milà
• Keywords: Premature ovarian failure; FMR1; Fragile X Syndrome

In Brief Objective: The association between FMR1 premutation and ovarian dysfunction has been widely studied, many factors such as the repeat tract size, sequence organization of CGG tract, parental origin premutation, mRNA levels have examined. X-chromosome inactivation also studied a risk factor, but reported results are inconclusive. Although some authors did not find an with premature failure manifestation, others suggest that severity premutation-associated phenotypes may be related to this X-inactivation ratio. Methods: To evaluate significance skewed patterns among female premutated carriers, we examined compared ratios 220 samples from general population 260 carriers phenotypically unaffected or affected by failure. Results: failed show direct effect in manifestation carriers. However, negative correlation found low-medium size alleles. Conclusions: cannot merely explained patterns; however, speculate together other genetic factors, it might contribute. present study evidence