Reproductive and Developmental Medicine

ORIGINAL ARTICLE
Year
: 2017  |  Volume : 1  |  Issue : 1  |  Page : 9--12

Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency


Qing Chen1, Qi-Qi Wang2, Bao-Zhu Cai1, Xiao-Jun Ren3, Feng Zhang2, Xiao-Jin Zhang4 
1 Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011; Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai 200032, China
2 Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011; Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai 200032; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200011, China
3 Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011, China
4 Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai 200011; Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Shanghai 200011, China

Correspondence Address:
Qi-Qi Wang
Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011
China
Xiao-Jin Zhang
Obstetrics and Gynecology Hospital, Fudan University, Shanghai 200011
China

Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method. Methods: A total of 153 Han Chinese women with sporadic POI were systematically analyzed for trinucleotide repeats within the FMR1 gene. We employed an improved strategy to screen for cytosine-guanine-guanine repeats in the 5' untranslated region of the FMR1 gene. Before using the previously reported FragilEase polymerase chain reaction (PCR) method for premutation identification, we developed a new cost-effective PCR-based method to exclude most of the normal allele carriers during the initial screening stage. Results: In our initial screening, 62.1% of women with POI were found to carry heterozygous normal alleles of FMR1, which were recognized by our sensitive and cost-effective method. The remaining women were further screened for the presence of the FMR1 premutation. We identified a Han Chinese woman with a premutation allele of FMR1 out of 153 sporadic POI women (0.7%). Conclusions: The frequent FMR1 premutation in Caucasian individuals with POI may not be a common genetic cause of sporadic POI in the Han Chinese population.


How to cite this article:
Chen Q, Wang QQ, Cai BZ, Ren XJ, Zhang F, Zhang XJ. Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency.Reprod Dev Med 2017;1:9-12


How to cite this URL:
Chen Q, Wang QQ, Cai BZ, Ren XJ, Zhang F, Zhang XJ. Analysis of the Fragile X Mental Retardation 1 Premutation in Han Chinese Women Presenting with Primary Ovarian Insufficiency. Reprod Dev Med [serial online] 2017 [cited 2020 Aug 10 ];1:9-12
Available from: http://www.repdevmed.org/article.asp?issn=2096-2924;year=2017;volume=1;issue=1;spage=9;epage=12;aulast=Chen;type=0