Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493)

Human Genetics

Volumn 99, Issue 6, 1997, Pages 796-800

  Haddad, Luciana A ^a   Fuzikawa, Alberto K ^a   Pena, Sérgio D J ^a,b  

^a FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

^b Nucleo de Genet Medica de MG   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; MICROSATELLITE DNA; TRINUCLEOTIDE;

ARTICLE; CLINICAL ARTICLE; COLORECTAL TUMOR; CONTROLLED STUDY; DNA POLYMORPHISM; DNA SEQUENCE; GEL ELECTROPHORESIS; GENOTYPE; HAPLOTYPE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; NUCLEIC ACID BASE SUBSTITUTION; POLYACRYLAMIDE GEL ELECTROPHORESIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SEQUENCE TAGGED SITE; TRINUCLEOTIDE REPEAT;

BASE SEQUENCE; COLORECTAL NEOPLASMS; ELECTROPHORESIS, POLYACRYLAMIDE GEL; HAPLOIDY; HUMANS; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; NUCLEIC ACID HETERODUPLEXES; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEATS;

EID: 0030943844     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050451     Document Type: Article

References (19)

1. Adams MD, Dubnick M, Kerlavage AR, Moreno R, Kelley JM, Utterback TR, Nagle JW, Fields C, Venter JC (1992) Sequence identification of 2375 human brain genes. Nature 355:632-634
2. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KMD (1994) A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Hum Mol Genet 3:455-457
3. Birnboim HC, Doly J (1979) A rapid alkaline extraction procedure for screening recombinant plasmid DNA. Nucleic Acids Res 7: 1513
4. Boguski MS, Lowe TMJ, Tolstoshev CM (1993) DbEST - database for "expressed sequence tags". Nat Genet 4:332-333
5. Campuzano V, Montermini L, Moltò MD, Pianese L, Cossée M, Cavalcanti F, Monros E, Rodius F, Duclos F, Monticelli A, Zara F, Cañizares J, Koutnikova H, Bidichandani SI, Gellera C, Brice A, Trouillas P, De Michele G, Filla A, De Frutos R, Palau F, Patel PI, Di Donato S, Mandel J-L, Cocozza S, Koenig M, Pandolfo M (1996) Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271:1423-1426
6. Eshleman JR, Markowitz SD (1996) Mismatch repair defects in human carcinogenesis. Hum Mol Genet 5:1489-1494
7. Gastier JM, Pulido JC, Sunden S, Brody T, Buetow KH, Murray JC, Weber JL, Hudson TJ, Sheffield VC, Duyk M (1995) Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers. Hum Mol Genet 4:1829-1836
8. n dynamic mutations. Genomics 32:75-85
9. Hazan J, Fontaine B, Bruyn RPM, Lamy C, Deutekom JCT van, Rime CS, Dürr A. Melki J, Lyon-Caen O, Agid Y, Munnich A, Padberg GW, Recondo J de, Frants RR, Brice A, Weissenbach J (1994) Linkage of a new locus for autosomal dominant familial spastic paraplegia to chromosome 2p. Hum Mol Genet 3:1569-1573
10. Igarashi S, Takiyama Y, Cancel G, Rogaeva EA, Sasaki H, Wakisaka A, Zhou Y-X, Takano H, Endo K, Sanpei K, Oyake M, Tanaka H, Stevanin G, Abbas N, Dürr A, Rogaev EI, Sherrington R, Tsuda T, Ikeda M, Cassa E, Nishizawa M, Benomar A, Julien J, Weissenbach J, Wang G-X, Agid Y, St George-Hyslop PH, Brice A, Tsuji S (1996) Intergenerational instability of the CAG repeat of the gene for Machado-Joseph (MJD1) is affected by the genotype of the normal chromosome: implications for the molecular mechanisms of the instability of the CAG repeat. Hum Mol Genet 5:923-932
11. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomäki P, Sistonen P, Aaltonen LA, Nyström-Lahti M, Guan X-Y, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, Chapelle A de la, Kinzler KW, Vogelstein B (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225
12. Nagamine CM, Chau K, Lau Y-FC (1989) A PCR artifact: generation of heteroduplexes. Am J Hum Genet 45:337-339
13. Nicolaides NC, Papadopoulos N, Liu B, Wei Y-F, Carter KC, Ruben SM, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Dunlop MG, Hamilton SR, Petersen GM, Chapelle A de la, Vogelstein B, Kinzler KW (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80
14. Papadopoulos N, Nicolaides NC, Liu B, Parsons R, Lengauer C, Palombo F, D'Arrigo A, Marlowitz S, Willson LKV, Kinzler KW, Jiricny J, Vogelstein B (1995) Mutations of GTBP in genetically unstable cells. Science 268:1915-1917
15. Pena SDJ, Macedo AM, Gontijo NF, Medeiros AM, Ribeiro JCC (1991) DNA bioprints: simple non-isotopic DNA fingerprints with biotinylated probes. Electrophoresis 12:146-152
16. Sanguinetti CJ, Neto ED, Simpson AJG (1994) Rapid silver staining and recovery of PCR products separated on polyacrylamide gels. Biotechniques 17:915-918
17. Santos FR, Tyler-Smith C, Pena SDJ (1995) PCR haplotypes for the human Y chromosome based on alphoid satellite DNA variants and heteroduplex analysis. Gene 165:191-198
18. Tautz D (1993) Notes on the definition and nomenclature of tandemly repetitive DNA sequences. In: Pena SDJ, Chakraborty R, Epplen JT, Jeffreys AJ (eds) DNA fingerprinting: state of the science. Birkhäuser, Basel, pp 21-28
19. Willems P (1994) Dynamic mutations hit double figures. Nat Genet 8:213-215