A strategy for fragile-X carder screening

Genetic Testing

Volumn 3, Issue 3, 1999, Pages 301-304

  Melis, M A ^a,b   Addis, M ^a   Lepiani, C ^a   Congeddu, E ^a   Cossu, P ^a   Cao, A ^a  

^a UNIVERSITY OF CAGLIARI   (Italy)

^b Dipto Biol Clin Eta Evolutiva   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; FEMALE; FRAGILE X SYNDROME; GENETIC RISK; GENETIC SCREENING; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEAT;

BLOTTING, SOUTHERN; DNA MUTATIONAL ANALYSIS; FEMALE; FLUOROMETRY; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; HETEROZYGOTE DETECTION; HUMANS; NERVE TISSUE PROTEINS; RNA-BINDING PROTEINS;

EID: 0032819944     PISSN: 10906576     EISSN: None     Source Type: Journal    
DOI: 10.1089/109065799316635     Document Type: Article

References (21)

1. BONTHRON, D., and STRAIN, L. (1993). Population screening for fragile-X syndrome (letter). Lancet 341, 769-770.
2. BROWN, W.T., NOLIN, S., HOUCK, G., Jr., DING, X., GLICKSMAN, A., LI, S.Y., STARK-HOUCK, S., BROPHY, P., DUNCAN, C., DOBKIN, C., and JENKINS, E. (1996). Prenatal diagnosis ad carrier screening for fragile X by PCR. Am. J. Med. Genet. 64, 191-195.
3. BUNDEY, S., and NORMAN, E. (1993). Population screening for fragile-X syndrome (letter). Lancet 341, 770.
4. EICHLER, E.E., RICHARD, S., GIBBS, R.A., and NELSON, D.L. (1993). Fine structure of the human FMR1 gene. Hum. Mol. Genet. 2, 1147-1153.
5. FU, Y.-H., KUHL, D.P.A., PIZZUTI, A., PIERETTI, M., SUTCLIFFE, J.S., RICHARDS, S., VERKERK, A.J.M.H., HOLDEN, J.J.A., FENWICK, R.G., WARREN, S.T., OOSTRA, B.A., NELSON, D.L., and CASKEY, C.T. (1991). Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 67, 1047-1058.
6. HOLDEN, J.A., CHALIFOUX, M., WING, M., JULIEN-INALSINGH, C., LAWSON, J.S., HIGGINS, J.V., SHERMAN, S., and WHITE, B.N. (1996). Distribution and frequency of FMR1 CGG repeat number in the general population. Dev. Brain. Dysfunct. 8, 405-107.
7. HOWARD-PEEBLES, P.N., MADDALENA, A., BLACK, S.H., and SCHULMAN, J.D. (1993). Population screening for fragile-X syndrome (letter). Lancet 341, 770.
8. HOWARD-PEEBLES, P.N., MADDALENA, A., SPENCE, W.C., LEVINSON, G., FALLON, L., BICK, D.P., and BACK, S.H. (1994). Fragile-X screening: What is the real issue? (letter). Am. J. Med. Genet. 53, 282.
9. MILLER, S.A., DYKES, D.D., and POLESKY, H.F. (1998). A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res. 16, 1215.
10. MURRAY, A., YOUINGS, S., DENNIS, S. LATSKY, L., LINCHAN, P., McKECHNIE, N., MACPHERSON, J., POUND, M., and JACOBS, P. (1996). Population screening at FRAXA and FRAXE loci: molecular analysis of boys with learning difficulties and their mothers. Hum. Mol. Genet. 5, 727-735.
11. OBERLÉ, I., ROUSSEAU, F., HEITZ, D., KRETZ, C., DEVYS, D., HANAUER, A., BOUE, J., BERTHEAS, M.F., and MANDEL, J.L. (1991). Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102.
12. PALOMAKI, G.E. (1994). Population based prenatal screening for the fragile X syndrome. J. Med. Screen. 1, 65-72.
13. PARK, V., HOWARD-PEEBLES, P.N., et al. (1994). Policy statement: American College of Medical Genetics. Fragile-X syndrome: diagnostic ad carrier testing. Am. J. Med. Genet. 53, 380-381.
14. ROUSSEAU, F., HEITS, D., BIANCALANA, V., BLUMFELD, S., KRETZ, C., BOUÉ, J., TOMMERUP, N., VAN DER HAGEN, C., DELOZIER-BLANCHET, C., CROQUETTE, M.-F., GILGERKRANTZ, S., JALBERT, P., VOELCKEL, M.-A., OBERLÉ, I., MANDEL, J.-L. (1991). Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. N. Engl. J. Med. 325, 1673-1681.
15. ROUSSEAU, F., HEITZ, D., BIANCALANA, V., OBERLÉ, I., and MANDEL, J.-L. (1992). On some technical aspects of direct DNA diagnosis of the fragile X syndrome. Am. J. Med. Genet. 43, 197-207.
16. SNOW, K., DOUK, L.K., HAGERMAN, R., PERGOLIZZI, R.G., ERSTER, S.H., and THIBODEAU, S.N. (1993). Analysis of a CGG sequence at the FMR-1 locus in fragile X families and in the general population. Am. J. Hum. Genet. 53, 1217-1228.
17. TURNER, G., WEBB, T., WAKE, S., and ROBINSON, H. (1996). Prevalence of fragile X syndrome. Am. J. Med. Genet. 64, 196-197.
18. VERKERK, A.J.M.H., PIERETTI, M., SUTCLIFFE, J.S., FU, Y.H., KUHL, D.P., PIZZUTI, A., REINER, O., RICHARDS, S., VICTORIA, M.F., ZHANG, F.P., EUSSEN, B.E., van OMMEN, G.J.B., BLONDEN, L.A.J., RIGGINS, G.J., CHASTAIN, J.I., KUNST, C.B., GALJAARD, H., CASKEY, C.T., NELSON, D.L., OOSTRA, B.A., and WARREN, S.T. (1991). Identification of a gene (FMR1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
19. WILDHAGEN, M.F., van OS, T.A.M., POLDER, J.J., ten KATE, L.P., and HABBEMA, J.D.F. (1998). Explorative study of the costs, effects and savings of screening for female Fragile X premutation and full mutation carriers in the general population. Community Genet 1, 36-47.
20. WEBB, T.P., BUNDEY, S.E., THAKE, A.I., and TODD, J. (1986). Population incidence and segregation ratios in the Martin-Bell syndrome. Am. J. Med. Genet. 23, 573-580.
21. YU, S., PRITCHARD, M., KREMER, E., LYNCH, M., NANCARROW, J., BAKER, E., HOLMAN, K., MULLEY, J.C., WARREN, S.T., SCHLESSINGER, D., SUTHERLAND, G.R., and RICHARDS, R.T. (1991). Fragile X genotype characterized by an unstable region of DNA. Science 252, 1179-1181.