Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique

Human Genetics

Volumn 99, Issue 3, 1997, Pages 308-311

  Willemsen, Rob ^a   Smits, Arie ^b   Mohkamsing, Serieta ^a   Van Beerendonk, Hetty ^b   De Haan, Anton ^b   De Vries, Bert ^a   Van Den Ouweland, Ans ^a   Sistermans, Erik ^b   Galjaard, Hans ^a   Oostra, Ben A ^a  

^a ERASMUS UNIVERSITY ROTTERDAM   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

MONOCLONAL ANTIBODY;

ARTICLE; BLOOD SMEAR; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; DIAGNOSTIC VALUE; DNA DETERMINATION; FEMALE; FRAGILE X SYNDROME; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOCYTE; MAJOR CLINICAL STUDY; MALE; METHYLATION; NUCLEOTIDE REPEAT; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING; TECHNIQUE;

ANTIBODIES, MONOCLONAL; EVALUATION STUDIES; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HUMANS; IMMUNOENZYME TECHNIQUES; MALE; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS;

EID: 17544386437     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050363     Document Type: Article

References (15)

1. De Graaff E, Willemsen R, Zhong N, De Die-Smulders CEM, Brown WT, Freling G, Oostra BA (1995) Instability of the CGG repeat and expression of the FMR1 protein in a male fragile X patient with a lung tumour. Am J Hum Genet 57:609-618
2. Devys D, Lutz Y, Rouyer N, Bellocq JP, Mandel JL (1993) The FMR-1 protein is cytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X premutation. Nat Genet 4:335-340
3. Feng Y, Lakkis D, Warren ST (1995) Quantitative comparison of FMR1 gene expression in normal and premutation alleles. Am J Hum Genet 56:106-113
4. Fu YH, Kuhl DP, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJ, Holden JJ, Fenwick R, Jr., Warren ST, Oostra BA, Nelson DL, Caskey CT (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
5. Hagerman RJ (1996) Physical and behavioral phenotype. In: Hagerman RJ, Silverman AC (eds) Fragile X syndrome: diagnosis, treatment and research. Johns Hopkins University Press, Baltimore London, pp 3-87
6. Hansen RS, Gartler SM, Scott CR, Chen SH, Laird CD (1992) Methylation analysis of CGG sites in the CpG island of the human FMR1 gene. Hum Mol Genet 1:571-578
7. Oberlé I, Rousseau F, Heitz D, Kretz C, Devys D, Hanauer A, Boue J, Bertheas MF, Mandel JL (1991) Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252:1097-1102
8. Oostra BA, Jacky PB, Brown WT, Rousseau F (1993) Guidelines for the diagnosis of fragile X syndrome. J Med Genet 30:410-413
9. Rousseau F, Heitz D, Oberlé I, Mandel JL (1991) Selection in blood cells from female carriers of the fragile X syndrome: inverse correlation between age and proportion of active X chromosomes carrying the full mutation. J Med Genet 28:830-836
10. Sutcliffe JS, Nelson DL, Zhang F, Pieretti M, Caskey CT, Saxe D, Warren ST (1992) DNA methylation represses FMR-1 transcription in fragile X syndrome. Hum Mol Genet 1:397-400
11. Turner G, Webb T, Wake S, Robinson H (1996) The prevalence of the fragile X syndrome. Am J Med Genet 64:196-197
12. Verheij C, Bakker CE, De Graaff E, Keulemans J, Willemsen R, Verkerk AJ, Galjaard H, Reuser AJ, Hoogeveen AT, Oostra BA (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363: 722-724
13. Verkerk AJ, Pieretti M, Sutcliffe JS, Fu YH, Kuhl DP, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang FP, Eussen BE, Ommen GJB van, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey CT, Nelson DL, Oostra BA, Warren ST (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
14. Willemsen R, Mohkamsing S, De Vries B, Devys D, Ouweland A van den, Mandel JL, Galjaard H, Oostra B (1995) Rapid anti-body test for fragile X syndrome. Lancet 345:1147-1148
15. Willemsen R, Oosterwijk JC, Los FJ, Galjaard H, Oostra BA (1996) Prenatal diagnosis of fragile X syndrome. Lancet 348: 967-968