A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency

作者：Rajkiewicz Marta^*; Szlendak Sauer Katarzyna; Sulek Anna; Gawlik Zawislak Sylwia; Krysa Wioletta; Radowicki Stanislaw; Zaremba Jacek

来源：European Journal of Obstetrics & Gynecology and Reproductive Biology, 2011, 155(2): 176-179.

DOI：10.1016/j.ejogrb.2010.12.031

• FMR1 gene
• Primary ovarian insufficiency
• Translocation

Objective: The aim of this study was to determine the prevalence of premutations in the FMR1 gene that cause primary ovarian insufficiency (POI) in a group of affected women.
Study design: Forty DNA samples were purified from peripheral blood collected from women with ovarian failure who were under 40 years of age. A routine cytogenetic test was performed to eliminate chromosomal aberrations as the cause of POI. The DNA was analysed by polymerase chain reaction (PCR) with primers specific to the FMR1 gene region. The PCR products were then separated in denaturing polyacrylamide gels using an ABI Prism 377 sequencer.
Results: Cytogenetic analysis of the samples revealed two X/autosome translocations. DNA analysis identified FMR1 gene premutations in three patients. The frequency of X/autosome translocations in the studied group was 2/40 (5.0%), and the frequency of FMR1 gene premutations was 3/38 cases (7.9%). Thus, genetic tests allowed for the identification of POI in five (12.5%) out of 40 women.
Conclusion: FMR1 gene premutation is a common genetic cause of POI.

• 出版日期2011-4