Diagnosis of the fragile X syndrome in males using methylation-specific PCR of the FMR1 locus

Genetics and Molecular Biology

Volumn 22, Issue 2, 1999, Pages 169-172

  Pena, Sérgio D J ^a   Sturzeneker, Rosane ^a  

^a Nucleo de Genet Medica de MG   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

BISULFITE; CYTOSINE; URACIL;

ARTICLE; CHROMOSOME 15; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DNA DETERMINATION; DNA METHYLATION; FRAGILE X SYNDROME; GENE LOCUS; HUMAN; HUMAN CELL; MALE; POLYMERASE CHAIN REACTION; PROMOTER REGION;

EID: 0032767670     PISSN: 14154757     EISSN: None     Source Type: Journal    
DOI: 10.1590/s1415-47571999000200005     Document Type: Article

References (8)

1. Haddad, L.A., Mingroni-Neto, R.C., Vianna-Morgante, A.M. and Pena, S.D.J. (1996). A PCR-based diagnostic test for fragile X syndrome suitable for screening among mentally retarded males. Hum. Genet. 97: 808-812.
2. Haddad, L.A., Aguiar. M.J.B., Costa, S.S., Mingroni-Neto, R.C., Vianna-Morgante, A.M. and Pena, S.D.J. (1999). Fully mutated and grayzone FRAXA alleles in Brazilian mentally retarded boys. Am. J. Med. Genet. 97: 808-812.
3. Herman, J.G., Graff, J.R., Myöhänen, S., Nelkin, B.D. and Baylin, S.B. (1996). Methylation-specific PCR: A novel PCR assay for methylation status of CpG islands. Proc. Natl. Acad. Sci. USA. 93: 9821-9826.
4. Kaufmann, W.E. and Reiss, A.L. (1999). Molecular and cellular genetics of fragile X syndrome. Am. J. Med. Genet. 88: 11-24.
5. Kubota, T., Das, S., Christian, S.L., Baylin, S.B., Herman, J.G. and Ledbetter, D.H. (1997). Methylation-specific PCR simplifies imprinting analysis. Nat. Genet. 16: 16-17.
6. Nelson, D.L. (1998). Fragile X syndrome. In: Principles of Molecular Medicine (Jameson, J.L., ed.). Humana Press. Totowa. NJ, pp. 1063-1067.
7. Stöger, R., Kajimura, T.M., Brown, W.T. and Laird, C.D. (1997). Epigenetic variation illustrated by DNA methylation patterns of the fragile X gene FMR1. Hum. Mol. Genet. 6: 1791-1801.
8. Zeschnigk, M., Lieh, C., Buiting, K., Doerfler, W. and Horsthemke, B. (1997). A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur. J. Hum. Genet. 5: 94-98.