Single-cell analysis of unstable genes

Journal of Assisted Reproduction and Genetics

Volumn 13, Issue 2, 1996, Pages 163-169

  Daniels, R ^a   Holding, C ^a,b   Kontogianni, E ^a,c   Monk, M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b Laboratory of Human Molecular Genetics   (United Kingdom)

^c Biogenomica Laboratory   (Greece)

Author keywords

fragile X; myotonic dystrophy; preimplantation diagnosis; single cell PCR; triplet repeat expansion; unstable genes

Indexed keywords

COMPLEMENTARY DNA;

ALLELE; ARTICLE; CYTOGENETICS; EMBRYO; FRAGILE X SYNDROME; GENE LOCUS; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SOMATIC CELL GENETICS;

ALLELES; DNA MUTATIONAL ANALYSIS; FEMALE; FRAGILE X MENTAL RETARDATION PROTEIN; FRAGILE X SYNDROME; GENES; HUMANS; MALE; MICROCHEMISTRY; MINISATELLITE REPEATS; MOUTH MUCOSA; MYOTONIC DYSTROPHY; NERVE TISSUE PROTEINS; POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SENSITIVITY AND SPECIFICITY; SPERMATOZOA; X CHROMOSOME;

EID: 0030039858     PISSN: 10580468     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF02072539     Document Type: Article

References (28)

1. Fu Y-H, Kuhl D, Pizzuti A, Pieretti M, Sutcliffe J, Richards S, Verkerk A, et al.: Variation of the CCG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 1991;67:1047-1058
2. n. Science 1991;252:1711-1714
3. Oberle I, Rousseau F, Hietz D, Kretz C, Devys D, Hanauer A, et al.: Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 1991; 252:1097-1102
4. Verkerk A, Pieretti M, Sutcliffe J, Fu Y, Kuhl D, Pizzuti A, et al.: Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 1991;65:904-914
5. Yu S, Pritchard M, Kremer E, Lynch M, Nancarrow J, Baker E, et al.: Fragile X genotype characterised by an unstable region of DNA. Science 1991;252:1179-1181
6. Brook JD, McCurrah ME, Harley HG, et al.: Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 1992;68:799-808
7. Fu Y-H, Pizzuti A, Fenwick R Jr, King J, Rajnarayan S, Dunne P, et al.: An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 1992;255:1256-1258
8. Lavedan C, Hofmann-Radvanyi H, Shelbourne P, Rabes JP, Duros C, Savoy D, et al.: Myotonic dystrophy: Size- and sex-dependent dynamics of CTG meiotic instability and somatic mocaisism. Am J Hum Genet 1993;52:875-883
9. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen GM, et al.: Myotonic dystrophy mutation: An unstable CTG repeat in the 3′ untranslated region of the gene. Science 1992;255:1253-1255
10. Bates G, Lehrach H: Trinucleotide repeat expansions and human genetic disease. BioEssays 1994;16:277-284
11. Pierretti M, Zhang F, Fu Y, Warren S, Oostra B, Caskey C, Nelson D: Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 1991;66:817-822
12. Hansen R, Gartler S, Scott C, Chen S, Laird C: Methylation analysis of CGG sites in the CpG island of the human FMR-1 gene. Hum Mol Genet 1992;1:571-578
13. Devys D, Biancalana V, Rousseau F, Boue J, Mandel J, Oberle I: Analysis of full fragile X mutations in fetal tissues and monozygotic twins indicate that abnormal methylation and somatic heterogeneity are established early in development. Am J Med Genet 1992;43:208-216
14. Rousseau F, Heitz D, Biancalana V, Blumenfeld S, Kretz C, Boue J et al.: Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New Eng J Med 1991;325:1673-1681
15. Wohrle D, Hennig I, Vogel W, Steinbach P: Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptual trinucleotide repeat expansion. Nat Genet 1993;4:140-142
16. Reyniers E, Vits L, De Boulle K, Van Roy B, et al.: The full mutation in the FMR-1 of male fragile X patients is absent in their sperm. Nat Genet 1993;4:143-146
17. Bachner D, Steinbach P, Wohrle D, Just W, Heamister H: Enhanced FMR-1 expression in testis. Nat Genet 1993;4:115-116
18. Jansen G, Willems P, Coerwinkel M, Nillsen W, Smeets H, Vits L, et al.: Gonosomal mosaicism in myotonic dystrophy patients: involvement of miotic events in (CTG)n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 1994;54:575-585
19. Williams C, Davies D, Williamson R: Segregation of (Delta)F508 and normal CFTR alleles in human sperm. Hum Mol Genet 1993;2:445-448
20. Kontogianni E, Davies E, Carey N, Johnson K, Monk M: Slippage and base misincorporation in vitro during PCR of the myotonic dystrophy locus in single cells (in preparation)
21. Brunner HG, Nillsen W, van Oost BA, Jansen G, Wieringa B, Ropers H-H, Smeets, HJM: Presymptomatic diagnosis of myotonic dystrophy. J Med Genet 1992;29:780-784
22. Zhang L, Leeflang EP, Yu J, Arnheim N: Studying human mutations by sperm typing: instability of CAG trinucleotide repeats in the human androgen receptor gene. Nat Genet 1993;7:531-535
23. Pergolizzi RG, Erster SH, Goonewardena P, Brown WT: Detection of full fragile X mutation. Lancet 1992;339:271-272
24. Brown WT, Houck GE, Jezioroska A, Levinson FN, et al.: Rapid fragile X carrier screening and parental diagnosis using a non-radioactive PCR test. JAMA 1993;270:1569-1575
25. Warren ST, Nelson DL: Advances in molecular analysis of fragile X syndrome. JAMA 1994;271:536-542
26. Frohman MA: Rapid amplification of complimentary DNA ends for generation of full-length complimentary DNAs: Thermal RACE. Methods Enzymol 1993;218:340-356
27. Daniels R, Kinis T, Serhal P, Monk M: Expression of the myotonin protein kinase gene in preimplantation human embyros. Hum Mol Genet 1995;4:389-393
28. Chong SS, Eichler EE, Nelson DL, Hughes MR: Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Gen 1994;51:522-526