Изучение структурных и функциональных нарушений Х-хромосомы, приводящих к различным формам Х-сцепленной умственной отсталости
Диссертация
Анализ наследования микросателлитных маркёров ИХ8548, П1АХАС1, РКАХАС2, ОХ81 691, ВХ81 123 и ВХ8П13 показал мейотическую нестабильность ИХ8548, РЯАХАС1 и ВХ81 123 в ряде семей с СМБ (в общей сложности 9 мутацийвсе мутации описаны впервые). В совокупности с данными о повышенных значениях гетерозиготности ВХ8548 и Р11АХА С1 в группе больных с СМБ по сравнению с контрольной, эти данные позволили… Читать ещё >
Список литературы
- Козлова С.И., Демикова Н. С., Семанова Е., Блинникова О.Е. (1996)
- Наследственные синдромы и медико-генетическое консультирование. Москва, изд. Практика: стр. 304−305.
- Aquilina G, Hess P, Branch P, MacGeoch C, Casciano I, Karran P, Bignami M (1994)
- A mismatch recognition defect in colon carcinoma confers DNA microsatellite instability and a mutator phenotype. Proc Natl Acad Sci U S A Sep 13 91:19 8905−8909.
- Baker E, Sutherland GR (1991) A new folate sensitive fragile site at lp21.3.
- J Med Genet May 28:5 356−7.
- Bambara RA, Murante RS, Henricksen LA (1997) Enzymes and reactions at theeukaryotic DNA replication fork. J Biol Chem Feb 21 272:8 4647−50.
- Baranov VS, Aseev MV, Rakisheva ZB, Kuleshov NP, Marinicheva GS, Bychkova
- AM, Zukin YD, Ledashcheva EA, Amoashi DS, Kuznetsova TV (1993) Molecular diagnosis of fragile X-chromosome syndrome (Martin-Bell syndrome) in patients of native populations. Genetika 1993 Jun 29:6 1026−34.
- Bell MV, Hirst MC, Nakahori Y, MacKinnon RN, Roche A, Flint TJ, Jacobs PA,
- Butler MG, Mangrum T, Gupta R, Singh DR (1991) A 15-item checklist for screeningmentally retarded males for the fragile X syndrome. Clin Genet 39: 347−354.
- Davids JR, Hagerman RJ, Eilert RE (1990) Orthopaedic aspects of fragile-X syndrome.
- J Bone Joint Surg. 72A: 889−896.
- Chakrabarti L, Bristulf J, Foss GS, Davies KE (1998) Expression of the murinehomologue of FMR2 in mouse brain and during development. Hum Mol Genet Mar 7:3 441−8.
- Chakrabarti L, Knight SJ, Flannery AV, Davies KE (1996) A candidate gene for mildmental handicap at the FRAXE fragile site. Hum Mol Genet Feb 5:2 275−82.
- Chiurazzi P, Macpherson J, Sherman S, Neri G (1996) Significance of linkagedisequilibrium between the fragile X locus and its flanking markers editorial. Am J Med Genet Jul 12 64:1 203−8.
- Chiurazzi P, Pomponi MG, Pietrobono R, Bakker CE, Neri G, Oostra BA (1999)
- Synergistic effect of histone hyperacetylation and DNA demethylation in the reactivation of the FMR1 gene. Hum. Molec. Genet. 8: 2317−2323.
- Chiurazzi P, Pomponi MG, Willemsen R, Oostra BA, Neri G (1998) In vitroreactivation of the FMR1 gene involved in fragile X syndrome. Hum. Molec. Genet. 7: 109−113.
- Choi YC, Chae CB (1993) Demethylation of somatic and testis-specific histone H2Aand H2B genes in F9 embryonal carcinoma cells. Mol Cell Biol Sep 13:9 5538−48.
- Chung MY, Ranum LP, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993) Evidencefor a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nat Genet Nov 5:3 254−8.
- Coffee B, Zhang F, Warren ST, Reines D (1999) Acetylated histones are associatedwith FMR1 in normal but not fragile X-syndrome cells. Nat Genet May 22:1 98 101.
- Crawford DC, Schwartz CE, Meadows KL, Newman JL, Taft LF, Gunter C, Brown
- Darlow JM, Leach DR (1998) Evidence for two preferred hairpin folding patterns ind (CGG).d (CCG) repeat tracts in vivo. J Mol Biol Jan 9 275:1 17−23.
- Darlow JM, Leach DR (1998) Secondary structures in d (CGG) and d (CCG) repeattracts. J Mol Biol Jan 9 275:1 3−16.
- De Boulle K, Verkerk AJMH, Reyniers E, Vits L, Hendrickx J, Van Roy B, Van Den
- Hotspot for deletions in the CGG repeat region of FMR1 in fragile X patients. Hum Mol Genet Jan 4:1 45−9.
- De Sario A, Geigl EM, Palmieri G, D’Urso M, Bernardi G (1996) A compositional mapof human chromosome band Xq28. Proc Natl Acad Sci U S A Feb 6 93:3 1 298 302.
- De Vries BBA, Fryns JP, Butler MJ, Canciani F, Wesbyvan Swaay E, van Hemel JO,
- Oostra BA, Halley DJJ, Niermeijer MF (1993) Clinical and molecular studies in fragile X patients with a Prader-Willi-like Phenotype. J Med Genet 30: 761−766.
- Devys D Lutz Y Rouyer N Bellocq JP Mandel JL (1993) The FMR-1 protein iscytoplasmic, most abundant in neurons and appears normal in carriers of a fragile X permutation. Nature Genet. 4: 335−340.
- Dhar V, Skoultchi AI, Schildkraut CL (1989) Activation and repression of a betaglobin gene in cell hybrids is accompanied by a shift in its temporal replication. Mol Cell Biol Aug 9:8 3524−32.
- Donnelly A, Kozman H, Gedeon AK, Webb S, Lynch M, Sutherland GR, Richards RI,
- Mulley JC (1994) A linkage map of microsatellite markers on the human X chromosome. Genomics Apr-20(3):363−70.
- Dreesen JCFM, Geraedts JPM, Dumoulin JCM, Evers JLH, Pieters MHEC (1995)
- RS46 (DXS548) genotyping of reproductive cells: approaching preimplantation testing of the fragile-X syndrome. Hum. Genet. 96: 323−329.
- Drouin R, Holmquist GP, Richer CL (1994) High-resolution replication bandscompared with morphologic G- and R-bands. Adv Hum Genet 22: 47−115.
- Eichler EE, Holden JJ, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS,
- Ward PA, Nelson DL (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nat Genet Sep 8:1 88−94.
- Freudenreich CH, Kantrow SM, Zakian VA (1998) Expansion and length-dependentfragility of CTG repeats in yeast. Science Feb 6 279:5352 853−6.
- Froster-Iskenius U, Schulze A, Schwinger E (1984) Transmission of the marker Xsyndrome trait by unaffected males: conclusions from studies of large families. Hum Genet 67: 419−427.
- Fryns JP (1989) X-linked mental retardation and the fragile X syndrome: a clinicalapproach. In: Davies KE, ed. The fragile X syndrome. Oxford- Oxford University Press, 1989, 1−39.
- Fryns JP (1993) Personal Communication Leuven, Belgium 5/28/1993.
- Fu YH, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH,
- Holden JJA, Fenwick RG Jr., Warren ST, Oostra BA, Nelson DL, Caskey CT (1991)
- Gecz J, Gedeon AK, Sutherland GR, Mulley JC (1996) Identification of the gene
- FMR2, associated with FRAXE mental retardation. Nat Genet May 13:1 105−8.
- Gedeon AK, Baker E, Robinson H, Partington MW, Gross B, Manca A, Korn B,
- Poustka A, Yu S, Sutherland GR, Mulley JC (1992) Fragile X syndrome without CGG amplification has an FMR-1 deletion. Nat Genet 1: 341−344.
- Giraud F, Ayme S, Mattei JF, Mattei MG (1976) Constitutional chromosomal breakage.1. Hum Genet 34: 125−136.
- Gordenin DA, Kunkel TA, Resnick MA (1997) Repeat expansion-all in a flap? Nat1. Genet Jun 16:2 116−8.
- Gu Y, Lugenbeel KA, Vockley JG, Grody WW, Nelson DL (1994) A de novo deletionin FMR1 in a patient with developmental delay. Hum Mol Genet Sep 3:9 1705−6.
- Haddad LA, Mingrani-Netto RC (1996) A PCR-based Test Suitable for Screening for
- Fragile X Syndrome Among Mentally Retarded Males. Hum. Genet. 97: 808−812.
- Hagerman RJ, Hull CE, Safanda JF, Carpenter I, Staley LW, O’Connor RA, Seydel C,
- Mazzocco MM, Snow K, Thibodeau SN (1994) High functioning fragile X males: demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am J Med Genet Jul 15 51:4 298−308.
- Hamel BC, Smits AP, de Graaff E, Smeets DF, Schoute F, Eussen BH, Knight SJ,
- Davies KE, Assman-Hulsmans CF, Oostra BA (1994) Segregation of FRAXE in a large family: clinical, psychometric, cytogenetic, and molecular data. Am J Hum Genet Nov-55(5):923−31.
- Hammond HA, Jin L, Zhong Y, Caskey CT, Chakraborty R (1994) Evaluation of 13short tandem repeat loci for use in personal identification applications. Am J Hum Genet Jul 55:1 175−89.
- Hansen RS, Canfield TK, Lamb MM, Gartler SM, Laird CD (1993) Association offragile X syndrome with delayed replication of the FMR1 gene. Cell Jul 2 73:7 1403−1409.
- Hansen RS, Canfield TK, Fjeld AD, Mumm S, Laird CD, Gartler SM (1997) A variabledomain of delayed replication in FRAXA fragile X chromosomes: X inactivation-like spread of late replication. Proc Natl Acad Sci U S A Apr 29 94:9 4587−92.
- Harvey J, Judge C, Wiener S (1977) Familial X-linked mental retardation with an Xchromosome abnormality. J Med Genet 14: 46−50.
- Heard E, Clerc P, Avner P (1997) X-chromosome inactivation in mammals. Annu Rev1. Genet 31: 571−610.
- Hecht F, Bixenman HA (1990) Location of FRAXD in Xq27.2. Fragile sites on the Xchromosome. Cancer Genet Cytogenet 1990 Oct 1 49:1 137−8.
- Hellman A, Rahat A, Scherer SW, Darvasi A, Tsui LC, Kerem B (2000) Replicationdelay along FRA7H, a common fragile site on human chromosome 7, leads to chromosomal instability. Mol Cell Biol Jun 20:12 4420−7.
- Hergersberg M, Matsuo K, Gassman M, Schaffner W, Luscher B, Rulicke T, Aguzzi K1995) Tissue-specific expression of a FMR-1/beta galactosidase fusion gene in transgenic mice. Hum Mol Genet 4: 359−366.
- Hirst M, Grewal P, Flannery A, Slatter R, Maher E, Barton D, Fryns JP, Davies K1995) Two new cases of FMR1 deletion associated with mental impairment. Am. J. Hum. Genet. 56: 67−74.
- Hirst MC, Barnicoat A, Flynn G, Wang Q, Daker M, Buckle VJ, Davies KE, Bobrow
- M (1993) The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum Mol Genet 2: 197−200.
- Holmquist GP (1987) Role of replication time in the control of tissue-specific geneexpression. Am J Hum Genet Feb 40:2 151−73.
- Hornstra IK, Nelson DL, Warren ST, Yang TP (1993) High resolution methylationanalysis of the FMR1 gene trinucleotide repeat region in fragile X syndrome. Hum Mol Genet Oct 2:10 1659−65.
- Jin P, Warren ST (2000) Understanding the molecular basis of fragile X syndrome.
- Hum. Molec. Genet. 9: 901−908.
- Khandjian EW, Corbin F, Woerly S, Rousseau F (1996) The fragile X mentalretardation protein is associated with ribosomes. Nature Genet. 12: 91−93.
- KlimaOauskas S, Roberts RJ (1995) M. Hhal binds tightly to substrates containingmismatches at the target base. Nucleic Acids Res Apr 25 23:8 1388−95.
- Knight SJL, Flannery AV, Hirst MC, Campbell L, Christodoulou Z, Phelps SR, Pointon
- J, Middleton-Price HR, Barnicoat A, Pembrey ME, Holland J, Oostra BA, Bobrow M, Davies KE (1993) Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. Cell 74: 127−134.
- Kolehmainen K, Karant Y (1994) Modeling methylation and IQ scores in fragile Xfemales and mosaic males. Am J Med Genet Jul 15 51:4 328−38.
- Kruyer H, Mila M, Glover G, Carbonell P, Ballesta F, Estivill X (1994) Fragile Xsyndrome and the (CGG)n mutation: two families with discordant MZ twins. Am. J. Hum. Genet. 54: 437−442.
- Laayoun A, Smith SS (1995) Methylation of slipped duplexes, snapbacks andcruciforms by human DNA (cytosine-5)methyltransferase. Nucleic Acids Res May 11 23:9 1584−9.
- Laird CD (1987) Proposed mechanism of inheritance and expression of the humanfragile X syndrome of mental retardation Genetics 117: 587−599.
- Laird CD (1991) Possible erasure of the imprint on a fragile X chromosome whentransmitted by a male. Am. J. Med. Genet. 38: 391−395.
- Le Beau MM, Rassool FV, Neilly ME, Espinosa 3rd R, Glover TW, Smith DI and
- McKeithan TW (1998) Replication of a common fragile site, FRA3B, occurs late in S phase and is delayed further upon induction: implications for the mechanism of fragile site induction. Human Molecular Genetics, Vol 7, 755−761.
- Ledbetter SA, Ledbetter DH A common fragile site at Xq27: theoretical and practicalimplications. Am J Hum Genet 1988 May 42:5 694−702
- Lewis EO (1929) Report on an investigation into the incidence of mental deficiency insix areas, 1925−1927. London: His Majesty’s Stationary Office.
- Limprasert P, Zhong N, Currie JR, Brown WT (1999) Possible founder effects for
- FRAXE alleles. Am J Med Genet May 28 84:3 286−90.
- Loesch DZ, Huggins R, Hay DA, Gedeon AK, Mulley JC, Sutherland GR (1993)
- Genotype-phenotype relationships in fragile X syndrome: a family study. Am J Hum Genet Nov 53:5 1064−73.
- Lubs HA (1969) A marker X chromosome. Am J Hum Genet 21: 231−244.
- Lugenbeel KA, Peier AM, Carson NL, Chudley AE, Nelson DL (1995) Intragenic lossof function mutations demonstrate the primary role of FMR1 in fragile X syndrome. Nature Genet. 10: 483−485.
- Maniatis T, Fritsch EF, Sambrook J (1989) Molecular cloning. Cold Spring Harbor1. boratory Press.
- McConkie-Rosell A, Lachiewicz AM, Spiridigliozzi GA, Tarleton J, Schoenwald S,
- Phelan MC, Goonewardena P, Ding X, Brown WT (1993) Evidence that methylation of the FMR-1 locus is responsible for variable phenotypic expression of the fragile X syndrome. Am. J. Hum. Genet. 53: 800−809.
- Meijer H, de Graaf E, Merckx DML, Jongbloed RJE, de Die-Smulders CEM, Engelen
- GGM, Fryns JP, Curfs PMG, Oostra BA (1994) A deletion of a 1.6 kb proximal to the CGG repeat of the FMR1 gene causes the clinical phenotype of the fragile X syndrome. Hum Mol Genet 3: 615−620.
- Mulley JC, Yu S, Loesch DZ, Hay DA, Donnelly A, Gedeon AK, Carbonell P, Lopez I,
- Glover G, Gabarron I (1995) FRAXE and mental retardation. J Med Genet Mar 32:3 162−9.
- Nussbaum RL, Ledbetter DH (1989) The metabolic basis of inherited disease. Eds.
- Scriver CR, Beaudet AL, Sly WS, Valle D, 327−341.77. 0'Regan EN, Branch P, Macpherson P, Karran P (1996) hMSH2-independent DNA
- Mismatch Recognition by Human Proteins. J Biol Chem 271: 1789−1796.
- Oberle I, Rousseau F, Heitz F, Kretz C, Davys 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.
- Oostra BA, Jacky PB, Brown WT, Rousseau F (1993) Guidelines for the diagnosis offragile X syndrome. National Fragile X Foundation. J Med Genet May 30:5 410−3.
- Oostra BA, Willems PJ (1995) A fragile gene. Bioessays Nov 17:11 941−7.
- Oudet C, Mornet E, Serre JL, Thomas F, Lentes-Zengerling S, Kretz C, Deluchat C,
- Parniewski P, Bacolla A, Jaworski A, Wells RD (1999) Nucleotide excision repairaffects the stability of long transcribed (CTG*CAG) tracts in an orientation-dependent manner in Escherichia coli. Nucleic Acids Res Jan 15 27:2 616−23.
- Parrish JE, Oostra BA, Verkerk AJMH, Richards CS, Reynolds J, Spikes AS, Shaffer1., Nelson DL (1994) Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE. Nature Genet. 8: 229−235.
- Peixoto A, dos Santos MR, Seruca R, Amorim A, Castedo S (1998) Analysis of FMR1and flanking microsatellite markers in normal and fragile X chromosomes in Portugal: evidence for a «protector» haplotype. Eur J Hum Genet 6, 518−522.
- Pembrey ME, Winter RM, Davies KE (1985) A permutation that generates a defect atcrossing over explains the inheritance of fragile X mental retardation. Am J Med Genet 21: 709−717.
- Penrose LS (1938) A clinical and genetic study of 1,280 cases of mental defect. Special
- Rep Ser 229. London: Medical Research Council.
- Quan F, Grompe M, Jakobs P, Popovich BW (1995) Spontaneous deletion in the FMR1gene in a patient with fragile X syndrome and cherubism. Hum. Molec. Genet. 4: 1681−1684.
- Reiss AL, Kazazian HH Jr, Krebs CM, McAughan A, Boehm CD, Abrams MT, Nelson
- DL (1994) Frequency and stability of the fragile X premutation. Hum Mol Genet Mar 3:3 393−8.
- Reiss AL, Lee J, Freund L (1994) Neuroanatomy of fragile X syndrome: the temporallobe. Neurology 44: 1317−1324.
- Richards RI, Holman K, Friend K, Kremer E, Hillen D, Staples A, Brown WT,
- Goonewardena P, Tarleton J, Schwartz C, Sutherland GR (1992) Evidence of founder chromosomes in fragile X syndrome. Nature Genet. 1: 257−260.
- Richards RI, Holman K, Kozman H, Kremer E, Lynch M, Pritchard M, Yu S, Mulley J,
- Sutherland GR (1991) Fragile X syndrome: genetic localisation by linkage mapping of two microsatellite repeats FRAXAC1 and FRAXAC2 which immediately flank the fragile site. J. Med. Genet. 28: 818−823.
- Richards RI, Sutherland GR (1994) Simple repeat DNA is not replicated simply. Nat1. Genet Feb 6:2 114−6.
- Riggins GJ, Sherman SL, Oostra BA, Feitell D, Sutcliffe JS, Nelson DL, van Oost BA,
- Smits AP, Kuhl D, Caskey CT, Warren ST (1991) A highly polymorphic dinucleotide repeat, DXS 548, is tightly linked to the fragile X site. Cytogenet Cell Genet 58:2085.
- Riggs AD (1990) DNA methylation and late replication probably aid cell memory, andtype I DNA reeling could aid chromosome folding and enhancer function. Philos Trans R Soc Lond B Biol Sei Jan 30 326:1235 285−97.
- Ritchie RJ, Chakrabarti L, Knight SJ, Harding RM, Davies KE (1997) Populationgenetics of the FRAXE and FRAXF GCC repeats, and a novel CGG repeat, in Xq28. Am J Med Genet Dec 31 73:4 463−9.
- Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J, Tommerup N, Van
- Der Hagen C, DeLozier-Blanchet C, Croquette MF, Gilgenkrantz S, Jalbert P, Voelckel MA, Oberle I, Mandel JL (1991) Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Eng. J. Med. 325: 1673−1681.
- Rousseau F, Heitz D, Tarleton J, MacPherson J, Malmgren H, Dahl N, Barnicoat A,
- Saiki RK (1990) Amplification of genomic DNA. In: PCR Protocols. Edited by Innis
- MA, Gelfand DH, Sninsky JJ. Academic Press, Inc.
- Schmid M, Feichtinger W, Jessberger A, Kohler J, Lange R (1986) The fragile site (16)q22). I. Induction by AT-specific DNA-ligands and population frequency. Hum Genet Sep 74:1 67−73.
- Selig S, Okumura K, Ward DC, Cedar H (1992) Delineation of DNA replication timezones by fluorescence in situ hybridization. EMBO J Mar 11:3 1217−25.
- Sherman SL, Jacobs PA, Morton NE (1985) Further segregation analysis of the fragile
- X syndrome with special reference to transmitting males. Hum Genet 69: 289−299.
- Smith SS, Kan JL, Baker DJ, Kaplan BE, Dembek P (1991) Recognition of unusual
- DNA structures by human DNA (cytosine-5)methytransferase. J Mol Biol Jan 5 217:1 39−51.
- Smith SS, Laayoun A, Lingeman RG, Baker DJ, Riley J (1994) Hypermethylation oftelomere-like foldbacks at codon 12 of the human c-Ha-ras gene and the trinucleotide repeat of the FMR-1 gene of fragile X. J Mol Biol Oct 21 243:2 143 151.
- Steinbach P, Wohrle D, Tariverdian G, Kennerknecht I, Barbi G, Edlinger H, Enders H,
- Gotz-Sothmann M, Heilbronner H, Hosenfeld D (1993) Molecular analysis of mutations in the gene FMR-1 segregating in fragile X families. Hum Genet Nov 92:5 491−8.
- Subramanian PS, Nelson DL, Chinault AC (1996) Large domains of apparent delayedreplication timing associated with triplet repeat expansion at FRAXA and FRAXE. Am. J. Hum. Genet. 59: 407−416.
- Sutherland GR (1977) Fragile sites on human chromosomes: demonstration of theirdependence on the type of tissue culture medium. Science 1977: 265−266.
- Sutherland GR (1982) Heritable fragile sites on human chromosomes. IX. Populationcytogenetics and segregation analysis of the BrdU-requiring fragile site at 10q25. Am J Hum Genet Sep 34:5 753−6.
- Sutherland GR, Baker E (1992) Characterisation of a new rare fragile site easilyconfused with the fragile X. Hum. Molec. Genet. 1: 111−113.
- Sutherland GR, Richards RI (1995) The molecular basis of fragile sites in humanchromosomes. Curr Opin Genet Dev Jun 5:3 323−7.
- Tarleton J, Richie R, Schwartz C, Rao K, Aylsworth AS, Lachiewicz A (1993) Anextensive de novo deletion removing FMR1 in a patient with mental retardation and the fragile X syndrome phenotype. Hum. Molec. Genet. 2: 1973−1974.
- Tejada MI, Duran M (1999) Screening for female fragile X permutation and fullmutation carriers. Community Genet 2: 49−50.
- Thommes P, Hubscher U (1990) Eukaryotic DNA replication. Enzymes and proteinsacting at the fork. Eur J Biochem Dec 27 194:3 699−712.
- Trottier Y, Imbert G, Poustka A, Fryns JP, Mandel JL (1994) Male with typical fragile
- X phenotype is deleted for part of the FMR1 gene and for about 100 kb of upstream region. Am J Med Genet Jul 15 51:4 454−7.
- Turner G, Jacobs PA (1984) Mental retardation and the fragile X, Adv Hum Genet, 13.
- Turner G, Webb D, Wake S, Robinson H (1996) Prevalence of the fragile X syndrome.
- Am J Med Genet 1996−64:196−7.
- Turner G, Robinson H, Wake S, Laing S, Partington M (1997) Case finding for thefragile X syndrome and its consequences. BMJ 315:1223−1226.
- Variation of the CGG repeat at the fragile X site results in genetic instability: resolutionof the Sherman paradox. Cell 67: 1047−1058.
- Verheij C, Bakker CE, de Graaff E, Keulemans J, Willemsen R, Verkerk AJMH,
- Galjaard H, Reuser AJJ, Hoogeveen AT, Oostra BA (1993) Characterization and localization of the FMR-1 gene product associated with fragile X syndrome. Nature 363: 722−724.
- 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: 905−14.
- Vincent A, Heitz D, Petit C, Kretz C, Oberle I, Mandel JL (1991) Abnormal patterndetected in fragile-X patients by pulsed-field gel electrophoresis. Nature Feb 14 349:6310 624−626.
- Vincent JB, Gurling HMD (1998) Point mutation in intron 10 of FMR1 is unlikely tobe a cause of fragile X syndrome (Letter) Hum. Mutat. 12: 431.
- Vogel F, Motulsky AG. Human Genetics. Springer-Verlag Berlin, Heidelberg 1986.
- Wang YC, Li SY (1998) Response to Vincent and Gurling (Letter) Hum. Mutat. 12:432.
- Warren ST, Nelson DL (1994) Advances in molecular analysis of fragile X syndrome.1. JAMA Feb 16 271:7 536−42.
- Weber C, Oudet C, Johnson S, Pilia G, Schlessinger D, Hanauer A (1993) Dinucleotiderepeat polymorphism close to IDS gene in Xq27.3-q28 (DXS1113). Hum Mol Genet May-2(5):612.
- Weiss A, Keshet I, Razin A, Cedar H (1996) DNA demethylation in vitro: involvementof RNA. Cell Sep 6 86:5 709−18.
- Weissenbach J, Gyapay G, Dib C, Vignal A, Morissette J, Millasseau P, Vaysseix G, 1. throp M (1992) A second-generation linkage map of the human genome. Nature Oct 29−359(6398):794−801.
- Wildhagen MF, van Os TAM, Polder JJ, ten Kate LP, Habbema JDF (1998)
- Explorative study of costs, effects and savings of screening for female fragile X permutation and full mutation carriers in the general population. Community Genet 1: 36−47.
- Wildhagen MF, van Os TA, Polder JJ, ten Kate LP, Habbema JD (1999) Efficacy ofcascade testing for fragile X syndrome. J Med Screen 6:2 70−6.
- White C (1997) Screening for fragile X is cost effective and accurate BMJ-315:205 210 (26 July).
- Willems PJ, Van Roy B, De Boulle K, Vits L, Reyniers E, Beck O, Dumon JE, Verkerk
- A, Oostra B (1992) Segregation of the fragile X mutation from an affected male to his normal daughter. Hum Mol Genet Oct 1:7 511−5.125
- Willemsen R, Mohkamsing S, De Vries B, Devys D, van den Ouweland A, Mandel JL,
- Galjaard H, Oostra B (1995) Rapid antibody test for fragile X syndrome. Lancet 345: 1147−1148.
- Wohrle D, Kotzot D, Hirst MC, Manca A, Korn B, Schmidt A, Barbi G, Rott HD,
- Poustka A, Davies KE, Steinbach P (1992) a microdeletion of less than 250 kb, including the proximal part of the FMR-1 gene and the fragile-X site, in a male with the clinical phenotype of the fragile X syndrome. Am J Hum Genet 51: 299−306.
- Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, Holman K, Mulley JC,
- Warren ST, Schlessinger D, Sutherland GR, Richards RI (1991) Fragile X genotype characterized by an unstable region of DNA. Science 252: 1179−1181.
- Zaslav AL, Brown WT (1991) Simultaneous expression of the rare and common fragilesites on the X chromosome. Clin Genet 1991 Dec 40:6 423−9.
- Zhong N, Dobkin C, Brown WT (1993) A complex mutable polymorphism locatedwithin the fragile X gene. Nat Genet Nov-5(3):248−53.
- Zhong N, Ju W, Pietrofesa J, Wang D, Dobkin C, Brown WT (1996) Fragile X «grayzone» alleles: AGG patterns, expansion risks, and associated haplotypes. Am J Med Genet Aug 9 64:2 261−5.
- Zhong N, Ye L, Dobkin C, Brown WT (1994) Fragile X founder chromosomeeffects: linkage disequilibrium or microsatellite heterogeneity? Am J Med Genet 51:4 405−411.