Volume 6, Issue 2 (2021)                   SJMR 2021, 6(2): 103-110 | Back to browse issues page

Research code: A-10-1372-1

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Abdi A, Moharrami T, Mahdian R, Saremi A. Report of Mutation type and Accurate Sizing of FMR1 CGG Repeats in Four Iranian Patients with Primary Ovarian Insufficiency (POI) and Idiopathic Infertility. SJMR 2021; 6 (2) :103-110
URL: http://saremjrm.com/article-1-216-en.html
1- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran.
2- Sarem Fertility & Infertility Research Center (SAFIR), Sarem Women's Hospital, Iran University of Medical Sciences (IUMS), Tehran, Iran. & Sarem Cell Research Center (SCRC), Sarem Women’s Hospital, Tehran, Iran. , Tamochinmoh@gmail.com
3- Genetic & Metabolism Group, Molecular Medicine division, Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran.
Abstract:   (325 Views)

Background and Aims: The fragile X mental retardation 1 (FMR1) gene contains a CGG repeat sequence within its 5’UTR, the expansion of which can result in both neurological and reproductive disorders. Repeats containing more than 200 CGG repeats are defined as a full mutation and cause fragile X syndrome. The repeat numbers between 55 and 200 CGG are defined as permutation (PM) and can cause premature ovarian insufficiency (POI) and diminished ovarian reserve (DOR). Normal alleles have 5 to 44 repeats and intermediate 45 to 54 (IM). POI affects ~ 1% of women before the age of 40 and 0.1% before the age of 30. Twenty percent of women with POI can have the premutation of CGG repeat, which can expand to the full mutation in the following generations causing Fragile X syndrome with Intellectual disability. Therefore it is important to evaluate patients with POF for the presence of CGG repeats. The aim of this study is mutation detection and determination of expanded allele of the FMR1 CGG repeats using TRP PCR in four Iranian women from 29 to 34 years old.
Material & Methods: Four women in the age range of 29-34 with premature ovarian insufficiency (POI) and idiopathic infertility after genetic counseling were referred to the Molecular Laboratory in the Department of Medical Genetics, Sarem Women's Hospital. DNA of whole blood samples was extracted using the salting-out method. Amplification of the FMR1 gene of every patient was performed by TRP PCR using automated capillary electrophoresis used for the detection of expended FMR1 alleles.
Findings: CGG repeats sizing using TRP-PCR identified 3 women with PM allele, one was homozygote and two were heterozygote for PM allele. Another patient showed a heterozygote IM allele.
Conclusion:  In this study, the FMR1 gene PM alleles and also IM allele were associated with infertility. It is recommended that women with POI and Infertility of unknown etiology, and particularly those with a family history of POI, should be considered for the evaluation of CGG repeats.



Article number: 5
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Article Type: Case Report | Subject: Women Diseases
Received: 2021/12/19 | Accepted: 2022/07/13 | Published: 2022/07/13

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