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2004 | 51 | 4 |

Tytuł artykułu

Adaptation of PCR technique for quantitative estimation of genetic material from different regions of chromosome 21 in cases of trisomy 21

Warianty tytułu

Języki publikacji

EN

Abstrakty

EN
Pre- and postnatal diagnosis of chromosomal aberrations is generally based on conventional cytogenetic analysis. In this paper, we have devised a quantitative polymerase chain reaction (Q-PCR) method to determine gene dose effects and applied it in cases of regular trisomy 21 as a model. The method is based on quantitative assessment of PCR products after using primers amplifying DNA fragments located in the pericentromeric, heterochromatic, euchromatic and telomeric regions of chromosome 21. A gene dose effect on the amount of PCR product in cases of trisomy 21 was confirmed. Moreover, a correlation between the amount of the PCR product of the examined sequences and their location in the chromosome was observed. The obtained results suggest that the Q-PCR technique can be applied in the diagnosis of aneuploidies.

Wydawca

-

Rocznik

Tom

51

Numer

4

Opis fizyczny

p.995-1001,fig.,ref.

Twórcy

autor
  • Medical University of Lodz, Sterlinga 3, 91-425 Lodz, Poland
autor
autor

Bibliografia

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  • Blake D, Tan SL, Ao A. (1999) Assessment of multiplex fluorescent PCR for screening single cells for trisomy 21 and single gene defects. Mol Hum Reprod.; 5: 1166-75.
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  • Chen CP, Chern SR, Chang CL, Lee CC, Chen WL, Chen LF, Wang W. (2000a) Prenatal diagnosis and genetic analysis of X chromosome polysomy 49,XXXXY. Prenat Diagn.; 20: 754-7.
  • Chen CP, Chern SR, Yeh LF, Chen WL, Chen LF, Wang W. (2000b) Prenatal diagnosis and genetic analysis of double trisomy 48,XXX,+ 18. Prenat Diagn.; 20: 750-3.
  • Cirigliano V, Lewin P, Szpiro-Tapies S, Fuster C, Adinolfi M. (2001) Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet.; 65: 421-7.
  • Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M. (1999) Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn.; 19: 1099-103.
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  • Lee HH, Chang JG, Lin SP, Chao HT, Yang ML, Ng HT. (1997) Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet.; 99: 364-7.
  • Mallet F. (1999) Comparison of competitive PCR and positive control-based PCR. In Methods in Molecular Medicine, 26: Quantitative PCR Protocols, Kochanowski B, Reischl U, ed, pp 103-16. Humana Press Inc., Totowa, NJ.
  • Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. (2001) Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implication for the future of prenatal diagnosis. Lancet.; 358: 1057-61.
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  • Pertl B, Adinolfi M. (1998) Diagnosis of chromosomal aneuploidies using quantitative fluorescent PCR. In Methods in Molecular Medicine, 16: Clinical Applications of PCR, Lo YMD, ed, pp 287-99. Humana Press Inc, Totowa, NJ.
  • Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. (1999) Rapid detection of chromosome aneuploidies by quantitative fluorescent PCR: first application on 247 chorionic villus samples. J Med Genet.; 36: 300-3.
  • Pertl B, Pieber D, Lercher-Hartlieb A, Orescovic I, Haeusler M, Winter R, Kroisel P, Adinolfi M. (1999) Rapid prenatal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chromosome disorders. Mol Hum Reprod.; 5: 1176-9.
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  • Toth T, Findlay I, Papp C, Toth-Pal E, Marton T, Nagy B, Quirke P, Papp Z. (1998a) Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. J Med Genet.; 35: 126-9.
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Typ dokumentu

Bibliografia

Identyfikatory

Identyfikator YADDA

bwmeta1.element.agro-article-d4328749-710f-4f0a-a744-00b9b750e074
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