Hostname: page-component-586b7cd67f-dsjbd Total loading time: 0 Render date: 2024-11-26T15:15:25.131Z Has data issue: false hasContentIssue false
  • English
  • Français

Combined Molecular and Cytogenetic Analysis for the Rapid Diagnosis of Fragile X Syndrome

Published online by Cambridge University Press:  01 August 2014

C. Bussani Mastellone ,
M.L. Giovannucci Uzielli ,
M. Grasso ,
P. Chiurazzi ,
G. Neri  and
Q. Wang
C. Bussani Mastellone*
Affiliation:
Human Genetics Service, University of Florence, Florence, Italy
M.L. Giovannucci Uzielli
Affiliation:
Human Genetics Service, University of Florence, Florence, Italy
M. Grasso
Affiliation:
Genetics Centre, Galliera Hospital, Genoa, Italy
P. Chiurazzi
Affiliation:
Institute of Medical Genetics, Catholic University, Rome, Italy
G. Neri
Affiliation:
Institute of Medical Genetics, Catholic University, Rome, Italy
Q. Wang
Affiliation:
Division of Medical and Molecular Genetics, Paediatric Research Unit, Guy's Hospital, London, England
*
Human Genetics Service, University of Florence, Via Masaccio 209, Florence 50132, Italy

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

The fragile X mutation is the result of an abnormal expansion of a CGG repeat sequence in the FMR-1 gene.

Molecular techniques enable the detection of the mutation and also of the exact length of this DNA sequence, allowing the classification of the tested subjects as normal, carrier or affected.

We propose a protocol of analysis that combines a method of non-radioactive PCR, Southern blotting and cytogenetic testing.

This protocol can be used for screening programme of selected groups of mentally retarded individuals and for prevention studies in families at risk.

Keywords

Fragile X syndromeFRAXA locusNon-radioactive PCR
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 165 - 168
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

1. Verkerk, AJMH, Pieretti, M, Sutcliffe, JS, Fu, YK, Kuhl, DPA, Pizzuti, A, Reiner, O, Richards, S, Victoria, MF, Zhang, F, Eussen, BE, van Ommen, GJB, Blonden, LA, Riggins, GJ, Kunst, CB, Gal-jaard, H, Caskey, CT, Nelson, DL, Oostra, BA, Warren, ST: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991; 65: 905–914.Google Scholar
2. Fu, YK, Kuhl, DPA, Pizzuti, A, Pieretti, M, Sutcliffe, JS, Richards, S, Verkerk, AJMH, Holden, JJA, Fenwick, RG, Warren, ST, Oostra, BA, Nelson, DL, Caskey, CT: Variation of the CGG repeat at the fragile X site results in genetic instability; Resolution of the Sherman paradox. Cell 1991; 67: 1047–1058.Google Scholar
3. Rousseau, F, Heitz, D, Biancalana, V, Blumenfeld, S, Kretz, C, Boué, J, Tommerup, N, Van der Hagen, C, DeLozier-Blanchet, C, Croquette, MF, Gilgenkrantz, S, Jalbert, P, Voelckel, MA, Oberlé, I, Mandel, JL: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991; 325: 1673–1681.CrossRefGoogle ScholarPubMed
4. Rousseau, F, Heitz, D, Biancalana, V, Oberlé, I, Mandel, JL: On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am J Med Genet 1992; 43: 197–207.CrossRefGoogle ScholarPubMed
5. Wang, Q, Green, E, Borbrow, M, Mathew, CG: A rapid, non-radioactive screening test for fragile X mutations at the FRAXA and FRAXE loci. J Med Genet 1995;32:170–173.Google Scholar