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Article

Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR

  • Authors:
    • Zhengyou Miao
    • Xiaodan Liu
    • Weiwei Li
    • Qunyan He
    • Xia Liu
  • View Affiliations / Copyright

    Affiliations: Jiaxing Maternity and Child Health Care Hospital, Jiaxing, Zhejiang 314000, P.R. China
  • Pages: 5107-5112
    |
    Published online on: April 13, 2018
       https://doi.org/10.3892/etm.2018.6060
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Abstract

Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability and the leading monogenic cause of autism spectrum disorder. It has previously been demonstrated that prenatal genetic diagnosis is efficient for the diagnosis of FXS. The present study investigated the diagnostic effects of nested polymerase chain reaction (PCR) for fragile X mental retardation 1 (FMR1) and expanded CGG repeats. It was demonstrated that the nested PCR assay rapidly measured the multi‑copies of the FMR1 gene in individual samples. The nested PCR assay detected normal CGG repeat lengths and expanded CGG repeat lengths with a low occurrence of false positives. In addition, the nested PCR assay resulted in increased sensitivity and specificity for patients with FXS. Furthermore, the nested PCR assay identified the mutation and generated conclusive cases for FXS, indicating that this assay is beneficial for the diagnosis of FXS patients. In conclusion, these outcomes indicate that nested PCR assay is a reliable and easier method for diagnosis of FXS, which may be used for the diagnosis of FXS patients.
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1 

Hill MK, Archibald AD, Cohen J and Metcalfe SA: A systematic review of population screening for fragile X syndrome. Genet Med. 12:396–410. 2010. View Article : Google Scholar : PubMed/NCBI

2 

Winarni Indah T, Chonchaiya W, Adams E, Au J, Mu Y, Rivera SM, Nguyen DV and Hagerman RJ: Sertraline may improve language developmental trajectory in young children with fragile × syndrome: A retrospective chart review. Autism Res Treat. 2012:1043172012.PubMed/NCBI

3 

Visootsak J, Warren ST, Anido A and Graham JM Jr: Fragile X syndrome: An update and review for the primary pediatrician. Clin Pediatr (Phila). 44:371–381. 2005. View Article : Google Scholar : PubMed/NCBI

4 

Ferreira GC and Lamonica DA: Language characterization in the X-fragile syndrome: A review study. Pro Fono. 17:111–120. 2005.(In Portuguese). PubMed/NCBI

5 

Kidd SA, Lachiewicz A, Barbouth D, Blitz RK, Delahunty C, McBrien D, Visootsak J and Berry-Kravis E: Fragile X syndrome: A review of associated medical problems. Pediatrics. 134:995–1005. 2014. View Article : Google Scholar : PubMed/NCBI

6 

Cowley B, Kirjanen S, Partanen J and Castrén ML: Epileptic electroencephalography profile associates with attention problems in children with fragile X syndrome: Review and case series. Front Hum Neurosci. 10:3532016. View Article : Google Scholar : PubMed/NCBI

7 

McCary LM and Roberts JE: Early identification of autism in fragile X syndrome: A review. J Intellect Disabil Res. 57:803–814. 2013. View Article : Google Scholar : PubMed/NCBI

8 

Ciaccio C, Fontana L, Milani D, Tabano S, Miozzo M and Esposito S: Fragile X syndrome: A review of clinical and molecular diagnoses. Ital J Pediatr. 43:392017. View Article : Google Scholar : PubMed/NCBI

9 

Lozano R, Azarang A, Wilaisakditipakorn T and Hagerman RJ: Fragile X syndrome: A review of clinical management. Intractable Rare Dis Res. 5:145–157. 2016. View Article : Google Scholar : PubMed/NCBI

10 

Essop FB and Krause A: Diagnostic, carrier and prenatal genetic testing for fragile X syndrome and other FMR-1-related disorders in Johannesburg, South Africa: A 20-year review. S Afr Med J. 103 12 Suppl 1:S994–S998. 2013. View Article : Google Scholar

11 

Rueda JR, Ballesteros J and Tejada MI: Systematic review of pharmacological treatments in fragile X syndrome. BMC Neurol. 9:532009. View Article : Google Scholar : PubMed/NCBI

12 

Xunclà M, Badenas C, Domínguez M, Rodríguez-Revenga L, Madrigal I, Jiménez L, Soler A, Borrell A, Sánchez A and Milà M: Fragile X syndrome prenatal diagnosis: Parental attitudes and reproductive responses. Reprod Biomed Online. 21:560–565. 2010. View Article : Google Scholar : PubMed/NCBI

13 

Romero-Espinoza P, Rosales-Reynoso MA, Willemsen R and Barros-Nunez P: FMR1 protein expression in blood smears for fragile X syndrome diagnosis in a Mexican population sample. Genet Test Mol Biomarkers. 14:511–514. 2010. View Article : Google Scholar : PubMed/NCBI

14 

Leehey MA: Fragile X-associated tremor/ataxia syndrome: Clinical phenotype, diagnosis, and treatment. J Investig Med. 57:830–836. 2009. View Article : Google Scholar : PubMed/NCBI

15 

Chen M, Zhao M, Lee CG and Chong SS: Identification of microsatellite markers <1 Mb from the FMR1 CGG repeat and development of a single-tube tetradecaplex PCR panel of highly polymorphic markers for preimplantation genetic diagnosis of fragile X syndrome. Genet Med. 18:869–875. 2016. View Article : Google Scholar : PubMed/NCBI

16 

Huang WC, Chou YP, Kao PM, Hsu TK, Su HC, Ho YN, Yang YC and Hsu BM: Nested-PCR and TaqMan real-time quantitative PCR assays for human adenoviruses in environmental waters. Water Sci Technol. 73:1832–1841. 2016. View Article : Google Scholar : PubMed/NCBI

17 

Rajan-Babu IS, Law HY, Yoon CS, Lee CG and Chong SS: Simplified strategy for rapid first-line screening of fragile X syndrome: Closed-tube triplet-primed PCR and amplicon melt peak analysis. Expert Rev Mol Med. 17:e72015. View Article : Google Scholar : PubMed/NCBI

18 

Malcov M, Naiman T, Yosef DB, Carmon A, Mey-Raz N, Amit A, Vagman I and Yaron Y: Preimplantation genetic diagnosis for fragile X syndrome using multiplex nested PCR. Reprod Biomed Online. 14:515–521. 2007. View Article : Google Scholar : PubMed/NCBI

19 

Curtis-Cioffi KM, Rodrigueiro DA, Rodrigues VC, Cicarelli RM and Scarel-Caminaga RM: Comparison between the polymerase chain reaction-based screening and the Southern blot methods for identification of fragile X syndrome. Genet Test Mol Biomarkers. 16:1303–1308. 2012. View Article : Google Scholar : PubMed/NCBI

20 

Rosales-Reynoso MA, Vilatela EA, Ojeda RM, Arce-Rivas A, Sandoval L, Troyo-Sanromán R and Barros-Núñez P: PCR approach for detection of fragile X syndrome and Huntington disease based on modified DNA: Limits and utility. Genet Test. 11:153–159. 2007. View Article : Google Scholar : PubMed/NCBI

21 

Vaughan MJ, Chanon A and Blakeslee JJ: Using capillary electrophoresis to quantify organic acids from plant tissue: A test case examining coffea arabica seeds. J Vis Exp. 2016. View Article : Google Scholar : PubMed/NCBI

22 

Hagerman R and Hagerman P: Advances in clinical and molecular understanding of the FMR1 premutation and fragile X-associated tremor/ataxia syndrome. Lancet Neurol. 12:786–798. 2013. View Article : Google Scholar : PubMed/NCBI

23 

Wang JY, Hessl D, Schneider A, Tassone F, Hagerman RJ and Rivera SM: Fragile X-associated tremor/ataxia syndrome: Influence of the FMR1 gene on motor fiber tracts in males with normal and premutation alleles. JAMA Neurol. 70:1022–1029. 2013. View Article : Google Scholar : PubMed/NCBI

24 

Godler DE, Inaba Y, Schwartz CE, Bui QM, Shi EZ, Li X, Herlihy AS, Skinner C, Hagerman RJ, Francis D, et al: Detection of skewed X-chromosome inactivation in Fragile X syndrome and X chromosome aneuploidy using quantitative melt analysis. Expert Rev Mol Med. 17:e132015. View Article : Google Scholar : PubMed/NCBI

25 

Luo S, Huang W, Xia Q, Xia Y, Du Q, Wu L and Duan R: Cryptic FMR1 mosaic deletion in a phenotypically normal mother of a boy with fragile X syndrome: Case report. BMC Med Genet. 15:1252014. View Article : Google Scholar : PubMed/NCBI

26 

Wilkinson R, Wang X, Kassianos AJ, Zuryn S, Roper KE, Osborne A, Sampangi S, Francis L, Raghunath V and Healy H: Laser capture microdissection and multiplex-tandem PCR analysis of proximal tubular epithelial cell signaling in human kidney disease. PLoS One. 9:e873452014. View Article : Google Scholar : PubMed/NCBI

27 

Vignini A, Morganti S, Salvolini E, Sartini D, Luzzi S, Fiorini R, Provinciali L, Di Primio R, Mazzanti L and Emanuelli M: Amyloid precursor protein expression is enhanced in human platelets from subjects with Alzheimer's disease and frontotemporal lobar degeneration: A real-time PCR study. Exp Gerontol. 48:1505–1508. 2013. View Article : Google Scholar : PubMed/NCBI

28 

Filipovic-Sadic S, Sah S, Chen L, Krosting J, Sekinger E, Zhang W, Hagerman PJ, Stenzel TT, Hadd AG, Latham GJ and Tassone F: A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome. Clin Chem. 56:399–408. 2010.PubMed/NCBI

29 

Christofolini DM, Lipay MV, Ramos MA, Brunoni D and Melaragno MI: Screening for fragile X syndrome among Brazilian mentally retarded male patients using PCR from buccal cell DNA. Genet Mol Res. 5:448–453. 2006.PubMed/NCBI

30 

Chow JC, Chen DJ, Lin CN, Chiu CY, Huang CB, Chiu PC, Lin CH, Lin SJ and Tzeng CC: Feasibility of blood spot PCR in large-scale screening of fragile X syndrome in southern Taiwan. J Formos Med Assoc. 102:12–16. 2003.PubMed/NCBI

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Copy and paste a formatted citation
Spandidos Publications style
Miao Z, Liu X, Li W, He Q and Liu X: Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. Exp Ther Med 15: 5107-5112, 2018.
APA
Miao, Z., Liu, X., Li, W., He, Q., & Liu, X. (2018). Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. Experimental and Therapeutic Medicine, 15, 5107-5112. https://doi.org/10.3892/etm.2018.6060
MLA
Miao, Z., Liu, X., Li, W., He, Q., Liu, X."Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR". Experimental and Therapeutic Medicine 15.6 (2018): 5107-5112.
Chicago
Miao, Z., Liu, X., Li, W., He, Q., Liu, X."Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR". Experimental and Therapeutic Medicine 15, no. 6 (2018): 5107-5112. https://doi.org/10.3892/etm.2018.6060
Copy and paste a formatted citation
x
Spandidos Publications style
Miao Z, Liu X, Li W, He Q and Liu X: Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. Exp Ther Med 15: 5107-5112, 2018.
APA
Miao, Z., Liu, X., Li, W., He, Q., & Liu, X. (2018). Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR. Experimental and Therapeutic Medicine, 15, 5107-5112. https://doi.org/10.3892/etm.2018.6060
MLA
Miao, Z., Liu, X., Li, W., He, Q., Liu, X."Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR". Experimental and Therapeutic Medicine 15.6 (2018): 5107-5112.
Chicago
Miao, Z., Liu, X., Li, W., He, Q., Liu, X."Assessment of efficacy of prenatal genetic diagnosis for fragile X syndrome using nested PCR". Experimental and Therapeutic Medicine 15, no. 6 (2018): 5107-5112. https://doi.org/10.3892/etm.2018.6060
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