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

• Authors: Joanna Nowacka , Zofia Helszer , Zofia Walter , Andrzej Płucienniczak , Bogdan Kałużewski
• Languages of publication: EN

Abstracts

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.

Keywords

EN

quantitative polymerase chain reaction; trisomy 21

• Publisher: Polish Biochemical Society
• Journal: Acta Biochimica Polonica
• Year: 2004
• Volume: 51
• Issue: 4
• Pages: 995-1001

Dates

published

2004

received

2004-01-15

revised

2004-10-08

accepted

2004-10-19

Contributors

author

Joanna Nowacka

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Zofia Helszer

• Department of Medical Genetics, Medical University of Lodz, Łódź, Poland

author

Zofia Walter

• Department of Molecular Genetics, University of Lodz, Łódź, Poland

author

Andrzej Płucienniczak

• Institue of Biotechnology and Antibiotics in Warsaw, Warszawa, Poland

author

Bogdan Kałużewski

• Department of Medical Genetics, Medical University of Lodz, Łódź, Poland

References

• Adinolfi M, Pertl B, Sherlock J. (1997) Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn.; 17: 1299-311.
• Bili C, Divane A, Apessos A, Konstantinos T, Apostolos A, Ioannis B, Periklis T, Florentin L. (2002) Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat Diagn.; 22: 360-5.
• 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.
• Celi FS, Cohen MM, Antonarakis SE, Wertheimer E, Roth J, Shuldiner AR. (1994) Determination of gene dosage by a quantitative adaptation of the polymerase chain reaction (gd-PCR): rapid detection of deletions and duplications of gene sequences. Genomics.; 21: 304-10.
• 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.
• del Rio T, Urbán Z, Csiszár K, Boyd CD. (1998) A gene-dosage PCR method for the detection of elastin gene deletions in patients with Williams syndrome. Clin Genet.; 54: 129-35.
• Erlich HA. (1989) PCR Technology: Principles and Applications for DNA Amplification. Stockton Press, New York.
• 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.
• Miller SA, Dykes DD, Polesky HF. (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res.; 16: 1215.
• 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.
• Pertl B, Weitgasser U, Kopp S, Kroiser PM, Sherlock J, Adinolfi M. (1996) Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet.; 98: 55-9.
• Pont-Kingdon G, Lyon E. (2003) Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymorphism loci. Clin Chem.; 49: 1087-94.
• Pramatarova A, Figlewicz DA, Krizus A, Han FY, Ceballos-Picot I, Nicole A, Dib M, Meininger V, Brown RH, Rouleau GA. (1995) Identification of new mutations in the Cu/Zn superoxide dismutase gene of patients with familial amyotrophic lateral sclerosis. Am J Hum Genet.; 56: 592-6.
• Raeymaekers L. (1998) Quantitative PCR. In Methods in Molecular Medicine, 16: Clinical Applications of PCR, Lo YMD, ed, pp 27-38. Humana Press Inc, Totowa, NJ.
• Reischl U, Kochanowski B. (1999) Quantitative PCR: A survey of the present technology, In Methods in Molecular Medicine, 26: Quantitative PCR Protocols, Kochanowski B, Reischl U, eds, pp 3-30. Humana Press Inc., Totowa, NJ.
• Samura O, Sohda S, Johnson KL, Pertl B, Ralston S, Delli-Bovi LC, Bianchi DW. (2001) Diagnosis of trisomy 21 in fetal nucleated erythrocytes from maternal blood by use of short tandem repeat sequences. Clin Chem.; 47: 1622-6.
• Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. (1999) The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Prenat Diagn.; 19: 817-26.
• Tóth T, Findlay I, Papp C, Tóth-Pál 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.
• Tóth T, Findlay I, Papp C, Tóth-Pál E, Marton T, Nagy B, Quirke P, Papp Z. (1998b) Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction. Prenat Diagn.; 18: 669-74.
• Verma L, Macdonald F, Leedham P, McConachie M, Dhanjal S, Hultén M. (1998) Rapid and simple prenatal DNA diagnosis of Down's syndrome. Lancet.; 352: 9-12.
• Von Eggeling F, Freytag M, Fahsold R, Horsthemke B, Claussen U. (1993) Rapid detection of trisomy 21 by quantitative PCR. Hum Genet.; 91: 567-70.