A simple multiplex FRAXA, FRAXE, and FRAXF PCR assay convenient for wide screening programs

Human Mutation

Volumn 13, Issue 2, 1999, Pages 166-169

  Strelnikov, V ^a   Nemtsova, M ^a   Chesnokova, G ^a   Kuleshov, N ^a   Zaletayev, Dmitri ^a  

^a RESEARCH CENTRE FOR MEDICAL GENETICS   (Russian Federation)

Author keywords

DNA methylation; Dynamic mutation; FRAXA; FRAXE; FRAXF; Screening

Indexed keywords

FOLIC ACID;

ARTICLE; DNA METHYLATION; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MENTAL DEFICIENCY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; X CHROMOSOME LINKED DISORDER;

CPG ISLANDS; FEMALE; FRAGILE X SYNDROME; GENETIC SCREENING; HUMANS; INFANT, NEWBORN; MALE; MENTAL RETARDATION; NEONATAL SCREENING; POLYMERASE CHAIN REACTION; PRENATAL DIAGNOSIS; SEX FACTORS;

EID: 0032932153     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1999)13:2<166::AID-HUMU10>3.0.CO;2-X     Document Type: Article

References (25)

1. Allen KM, Gleeson JG, Bagrodia S, Partington MW, MacMillan JC, Cerione RA, Mulley JC, Walsh CA. 1998. PAK3 mutation in nonsyndromic X-linked mental retardation. Nature Genet 20:25-30.
2. Allingham-Hawkins DJ, Ray PN. 1995. FRAXE expansion is not a common etiological factor among developmentally delayed males. Am J Hum Genet 57:72-76.
3. Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Crollius HR, Carrie A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JR Beldjord C, Kahn A, Moraine C, Chelly J. 1998. Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation. Nature 392:923-926.
4. Chiurazzi R Grazia Pomponi M, Willemsen R, Oostra B, Neri G. 1998. In vitro reactivation of the FMR1 gene involved in fragile X syndrome. Hum Mol Genet 7:109-113.
5. D'Adamo P, Menegon A, Lo Nigro C, Grasso M, Gulisano M, Tamanini F, Bienvenu T, Gedeon AK, Oostra B, Wu SK, Tandon A, Valtorta F, Balch WE, Chelly J, Toniolo D. 1998. Mutations in GDI1 are responsible for X-linked non-specific mental retardation. Nature Genet 19:134-139.
6. de Graaff E, Rouillard R Willems PJ, Smits AR Rousseau F, Oostra BA. 1995. Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum Mol Genet 4:45-49.
7. European XLMR Consortium. 1997. X-linked nonspecific mental retardation (MRX): linkage studies in 25 unrelated families. In: 8th International Workshop on the Fragile X and X-linked Mental Retardation. Picton, Ontario, Canada, 17-22 August 1997.
8. Feng Y, Zhang F, Lokey LK, Chastain JL, Lakkis L, Eberhart D, Warren ST. 1995. Translation suppression by trinucleotide repeat expansion at FMR1. Science 268:731-734.
9. Flynn GA, Hirst MC, Knight SJL, MacPherson JN, Barber JCK, Flannery AV, Davies KE. 1993. Identification of the FRAXE fragile site in two families ascertained for X linked mental retardation. J Med Genet 30:97-103.
10. Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S. 1991. Variation of the CGG repeat at the fragile X site results in genenic instability: resolution of the Sherman paradox. Cell 67:1047-1058.
11. Gecz J, Gedeon A, Sutherland G, Mulley J. 1996. Identification of the FMR2, associated with FRAXE mental retardation. Nature Genet 13:105-108.
12. Gedeon AK, Donnelly AJ, Mulley JC, Kerr B, Turner G. 1996. How many X-linked genes for non-specific mental retardation (MRX) are there? Am J Med Genet 64:158-162.
13. Hagerman RJ, Hull CE. 1994. High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet 51:298-308.
14. Hirst MC, Barnicoat A, Flynn G, Wang Q, Daker M, Buckle VJ, Davies KE. 1993. The identification of a third fragile site, FRAXF in Xq27-28 distal to both FRAXA and FRAXE. Hum Mol Genet 2:197-200.
15. Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon G. 1993. Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74:127-134.
16. Knight SJE, Ritchie RG, Chacrabarti L, Cross G, Tailor GR, Mueller RF, Hurst J, Paterson J, Yates JRW, Down DJ, Davies KE. 1996. A study of FRAXE in mentally retarded individuals referred for fragile X syndrome (FRAXA) testing in the United Kingdom. Am J Hum Genet 58:906-913.
17. Maddalena A, Hicks BD, Spence WC, Levinson G, Howard-Peebles PN, 1994. Prenatal diagnosis in known fragile X carriers. Am J Med Genet 51:490-496.
18. McConkie-Rossel A, Lachewicz A. 1993. Evidence that methylation of FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am J Med Genet 53:800-809.
19. Ritchie RJ, Knight SJL, Hirst MC, Grewal PK, Bobrow M, Cross GS, Davies KE. 1994. The cloning of FRAXF: trinucleotide repeat expansion and methylation ot a third fragile site in distal Xqter. Hum Mol Genet 3:2115-2121.
20. Sutherland GR, Baker E. 1992. Characterisation of a new rare fragile site easily confused with the fragile X. Hum Mol Genet 1:111-113.
21. Turner G, Webb T, Wake S, Robinson H. 1996. Prevalence of fragile X syndrome. Am J Med Genet 64:196-197.
22. Verheij C, Bakker CE, de Graaff E. 1993. Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363:722-724.
23. Verkerk AJMH, Pieretti M, Sutcliffe GS. 1991. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65:905-914.
24. ® 100 as a medium for simple extraction of DNA for PCR-based tiping from forensic material. BioTechniques 10:506-513.
25. Willemsen R, Mohkamsing S, De Vries B. 1995. Rapid antibody test for fragile X syndrome. Lancet 345:1147-1148.