波兰原发性卵巢功能不全患者 FMR1 基因前突变的分子和细胞遗传学研究。
A molecular and cytogenetic investigation of FMR1 gene premutations in Polish patients with primary ovarian insufficiency.
机构信息
Department of Genetics, Institute of Psychiatry and Neurology, 9 Sobieskiego Street, 02-957 Warsaw, Poland.
出版信息
Eur J Obstet Gynecol Reprod Biol. 2011 Apr;155(2):176-9. doi: 10.1016/j.ejogrb.2010.12.031. Epub 2011 Jan 26.
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.
目的
本研究旨在确定导致原发性卵巢功能不全（POI）的 FMR1 基因突变在一组受影响女性中的发生率。
研究设计
从年龄在 40 岁以下卵巢衰竭的女性采集的外周血中纯化了 40 个 DNA 样本。进行常规细胞遗传学检测以排除染色体异常作为 POI 的原因。使用针对 FMR1 基因区域的引物通过聚合酶链反应（PCR）对 DNA 进行分析。然后使用 ABI Prism 377 测序仪将 PCR 产物在变性聚丙烯酰胺凝胶中分离。
结果
对样本的细胞遗传学分析显示有两例 X/常染色体易位。DNA 分析在三位患者中发现了 FMR1 基因突变。在研究组中，X/常染色体易位的频率为 2/40（5.0％），FMR1 基因突变的频率为 3/38 例（7.9％）。因此，基因检测可在 40 名女性中的 5 名（12.5％）中确定 POI。
结论
FMR1 基因突变是 POI 的常见遗传原因。
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