Multiplex methylation specific PCR analysis of fragile X syndrome: Experience in Songklanagarind Hospital

Journal of the Medical Association of Thailand

Volumn 88, Issue 8, 2005, Pages 1057-1061

  Charalsawadi, Chariyawan ^a   Sripo, Thanya ^a   Limprasert, Pornprot ^a,b  

^a PRINCE OF SONGKLA UNIVERSITY   (Thailand)

^b PRINCE OF SONGKLA UNIVERSITY   (Thailand)

Author keywords

FMRI gene; Mental retardation; Methylation specific PCR

Indexed keywords

ARTICLE; CLINICAL TRIAL; FRAGILE X SYNDROME; HUMAN; MAJOR CLINICAL STUDY; MALE; METHYLATION; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDY; SOUTHERN BLOTTING;

DNA METHYLATION; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENETIC MARKERS; HOSPITALS, UNIVERSITY; HUMANS; MALE; POLYMERASE CHAIN REACTION; PROSPECTIVE STUDIES; REPETITIVE SEQUENCES, NUCLEIC ACID; THAILAND; TRINUCLEOTIDE REPEATS;

EID: 26244449253     PISSN: 01252208     EISSN: 01252208     Source Type: Journal    
DOI: None     Document Type: Article

References (19)

1. Limprasert P, Ruangdaraganon N, Sura T. Molecular screening for fragile X syndrome in Thailand. Southeast Asian J Trop Med Pub Health 1999; 30 (Suppl 2): 117-21.
2. Fu YH, Kuhl DPA, Pizzuti A. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991; 67: 1047-58.
3. Oberle I, Rousseau F, Heitz D. Instability of a 550 base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252: 1097-102.
4. Bell MV, Hirst MC, Nakahori Y. Physical mapping across the fragile X: hypermethylation and clinical expression of the fragile X syndrome. Cell 1991; 64: 861-8.
5. Hagerman RJ, Hull CE, Safanda JF. High functioning fragile X male: demonstration of unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 1994; 51: 298-308.
6. Erster SH, Brown WT, Goonewardena P. Polymerase chain reaction analysis of fragile X mutation. Hum Genet 1992; 90: 55-61.
7. Brown WT, Houck GE, Jeziorowska A. Rapid fragile X carrier screening and prenatal diagnosis using a non-radioactive PCR test. JAMA 1993; 270: 1569-75.
8. Rousseau F, Heitz D, Biancalana V. Direct analysis by DNA analysis of the fragile X syndrome of mental retardation. N Engl J Med 1991; 325: 1673-81.
9. Willemsen R, Oostra BA. FMRP detection assay for the diagnosis of the fragile X syndrome. Am J Med Genet 2000; 97: 183-8.
10. Pai JT, Tsai SF, Horng CJ. Absence of FMR-1 gene expression can be detected with RNA extracted from dried blood specimens. Hum Genet 1994; 93: 488-93.
11. Herman JG, Graff JR, Myohanen S. Methylation-specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996; 93: 9821-6.
12. Kubota T, Das S, Christian SL. Methylation-specific PCR simplifies imprinting analysis. Nat Genet 1997; 16: 16-7.
13. Das S, Kubota T, Song M. Methylation analysis for fragile X syndrome by PCR. Genet Test 1997/98; 1: 151-5.
14. Weinhäusel A, Haas OA. Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR. Hum Genet 2001; 108: 450-8.
15. Clark SJ, Harrison J, Paul CL, Frommer M. High sensitivity mapping of methylated cytosine. Nucl Acids Res 1994; 22: 2990-7.
16. Formmer M, Mc Donald LE, Millar DS. Agenomic sequencing protocol that yields a positive display of 5-methyl cytosine residue in individual DNA strands. Proc Natl Acad Sci USA 1992; 89: 1827-31.
17. Limprasert P, Ruangdaraganon N, Vasiknanonte P. A clinical checklist for fragile X syndrome: screening of Thai boys with developmental delay of unknown cause. J Med Assoc Thai 2000; 83: 1260-6.
18. Costello JF, Plass C. Methylation matters. J Med Genet 2001; 38: 285-303.
19. Zhou Y, Law H-Y, Boehm D. Robust fragile X (CGG)n genotype classification using a methylation specific tripple PCR assay. J Med Genet 2004; 41: e45.